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Journal articles on the topic 'Leber Hereditary Optic Neuropathy (LHON)'

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Published: 4 June 2021

Last updated: 1 February 2022

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1

Cupini, L. M., R. Massa, R. Floris, G. Manenti, B. Martini, A. Tessa, G. Nappi, G. Bernardi, and F. M. Santorelli. "Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation." Neurology 60, no. 4 (February 25, 2003): 717–19. http://dx.doi.org/10.1212/01.wnl.0000048662.77572.fb.

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The authors report neurologic features in a large family harboring the mitochondrial DNA (mtDNA) mutation T14484C associated with Leber hereditary optic neuropathy (LHON). In the maternal line the mtDNA mutation was associated with optic neuropathy or migraine with aura or without aura and transient neurologic/visual disturbances. The segregation of familiar cases of migraine and LHON mutation broadens the clinical phenotype associated with a primary LHON mutation.

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2

Lucia Cascavilla, Maria. "La neuropatia ottica ereditaria di Leber (Leber Hereditary Optic Neuropathy, LHON)." AboutOpen 3, no. 1 (February 23, 2017): 1–9. http://dx.doi.org/10.19156/abtpn.2017.0016.

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3

Huoponen, Kirsi, Anu Puomila, Marja-Liisa Savontaus, Eila Mustonen, Elina Kronqvist, and Eeva Nikoskelainen. "Genetic counseling in Leber hereditary optic neuropathy (LHON)." Acta Ophthalmologica Scandinavica 80, no. 1 (February 2002): 38–43. http://dx.doi.org/10.1034/j.1600-0420.2002.800108.x.

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4

Howell, N., I. Kubacka, S. Halvorson, B. Howell, D. A. McCullough, and D. Mackey. "Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees." Genetics 140, no. 1 (May 1, 1995): 285–302. http://dx.doi.org/10.1093/genetics/140.1.285.

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Abstract The nucleotide sequences of the mitochondrial genomes from patients with Leber hereditary optic neuropathy (LHON) were used for phylogenetic analysis to study the origin and population history of pathogenic mitochondrial mutations. Sequences of both the coding region (8300 bp) and the more rapidly evolving noncoding control region (1300 bp) were analyzed. Patients with the primary LHON mutations at nucleotides 3460, 11,778, and 14,484 were included in this study, as were LHON patients and non-LHON controls that lacked these primary mutations; some of the subjects also carried secondary LHON mutations. The phylogenetic analyses demonstrate that primary LHON mutations arose and were fixed multiple times within the population, even for the small set of LHON patients that was analyzed in these initial studies. In contrast, the secondary LHON mutations at nucleotides 4216, 4917, and 13,708 arose once: the mitochondrial genomes that carried these secondary mutations formed a well-supported phylogenetic cluster that apparently arose 60,000 to 100,000 years ago. Previous studies found secondary LHON mutations at a higher frequency among LHON patients than among control subjects. However, this finding does not prove a pathogenetic role of these mutations in LHON. Instead, the increased frequency is more likely to reflect the population genetic history of secondary mutations relative to that of primary LHON mutations.

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Nemes, A., I. F. M. De Coo, L. Spruijt, H. J. M. Smeets, P. F. Chinnery, O. I. I. Soliman, M. L. Geleijnse, and F. J. Ten Cate. "Is There Alteration in Aortic Stiffness in Leber Hereditary Optic Neuropathy?" European Journal of Ophthalmology 18, no. 2 (March 2008): 309–12. http://dx.doi.org/10.1177/112067210801800225.

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Purpose Leber hereditary optic neuropathy (LHON) is recognized as the most common cause of isolated blindness in young men. The current study was designed to test whether LHON as a mitochondrial disease is associated with vascular functional alterations characterized by aortic elastic properties during echocardiography. Methods A total of 19 patients with typical features of LHON aged 42±13 years (10 males) were included. Their results were compared to 19 age- and gender-matched healthy controls. Aortic stiffness index was calculated from the echocardiographically derived aortic diameters and the clinical blood pressure data. Results In this patient population, the point mutation was present in 3460G>A position in five cases, in 11778G>A position in five cases, and in 14484T>C position in nine patients. Diastolic aortic diameter (26.0±2.5 mm vs 28.4±4.1 mm, pp<0.05) and aortic stiffness index (5.1±2.6 vs 12.0±7.9, pp<0.05) were significantly increased in LHON patients compared to controls. Conclusions Aortic stiffness can be increased in LHON disease, but further studies are warranted to confirm these findings in a larger LHON patient population with a more reliable method focusing on the pathophysiologic background.

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6

Sharifian Dorche, Maryam, Mohammad Reza Khalili, Masood Nomovi, and Amirhosein Sharifian Dorche. "Leber Hereditary Optic Neuropathy Plus: A Case Report and Review of Literatures." Internal Medicine and Medical Investigation Journal 2, no. 3 (September 11, 2017): 108. http://dx.doi.org/10.24200/imminv.v2i3.67.

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Background: Leber hereditary optic neuropathy (LHON) is an inherited visual loss and optic atrophy due to mitochondrial mutation. Most of these patients had not any other neurological signs and symptoms more than a visual loss. In a small group of the patients, other neurological manifestations may be occurs. This rare presentation of the disease was named " LHON plus syndromes ."Case presentation: A 15-year-old boy who was completely healthy until age 9, when he gradually developed painless visual loss in his right eye. After 3 months, similar symptoms occurred in his left eye. Within next 2 years, psychomotor regression happened, and at age 11, very intractable seizures were started. According to physical examination and past medical history, LHON plus syndrome was diagnosed for him. Management of seizure and other symptomatic treatments were started, and there was a weak response to drugs.Conclusion: Early diagnosis and ruling out treatable conditions are critical points in these patients.

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7

Joshi, Stuti, and Allan Kermode. "048 Harding’s disease: an important MS mimic." Journal of Neurology, Neurosurgery & Psychiatry 90, e7 (July 2019): A16.2—A16. http://dx.doi.org/10.1136/jnnp-2019-anzan.43.

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IntroductionLeber’s hereditary optic neuropathy is a mitochondrially-inherited disorder characterized by bilateral, painless visual loss, which leads to severe optic atrophy.1 LHON can be associated with an MS-like illness referred to as Harding’s disease.2We report two siblings, who both harbour the 11778 mtDNA mutation, but manifest markedly different clinical phenotypes; a male with classical LHON and a female with Harding’s disease.Methods and ResultsA 61-year-old female, who was diagnosed with MS 22 years ago was referred to our service for a second opinion. She developed unilateral painless visual loss in her 20’s, was diagnosed with optic neuritis and treated with corticosteroids with some recovery. A second episode of more severe visual loss at age 39 left her with visual impairment to less than finger counting. 4 years later, she had an episode of dysarthria and gait ataxia. MRI showed multifocal white matter lesions involving the juxta-cortical and periventricular regions, cerebellar peduncle and cervical cord. Targeted views of the optic pathways showed hyperintensity of the left optic nerve, with involvement extending into the optic canal.The patient has one brother who was diagnosed with LHON at age 37 after presenting with severe painless bilateral sequential visual loss. Genetic testing of the index patient confirmed the presence of the same mutation identified in her brother. ConclusionLHON and Harding’s disease demonstrate a great degree of variability in clinical phenotype and penetrance between males and females as well as individuals within the same family.3 While there is no evidence for screening MS cohorts for the LHON, consider genetic testing in patients with severe and persistent bilateral visual loss or with a suggestive family history.4ReferencesHarding AE, Sweeney MG, Miller DH, Mumford CJ, Kellar-Wood H, Menard D,McDonald WI, Compston DA. Occurrence of a multiple sclerosis-like illness in women who have a Leber’s hereditary optic neuropathy mitochondrial DNA mutation. Brain. 1992 August;115 ( Pt 4):979–89.Palace J. Multiple sclerosis associated with Leber’s Hereditary Optic Neuropathy. J Neurol Sci. 2009 November 15;286(1–2):24–7. Review.Pfeffer G, Burke A, Yu-Wai-Man P, Compston DAS, Chinnery PF. Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations. Neurology. 2013;81(24):2073–2081.Yu-Wai-Man P, Chinnery PF. Leber hereditary optic neuropathy. In: Pagon RA MP, Adam Ardinger HH eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 2013. Accessed May 7, 2018.

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Gerber, Sylvie, Christophe Orssaud, Josseline Kaplan, Catrine Johansson, and Jean-Michel Rozet. "MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy." Genes 12, no. 4 (April 2, 2021): 521. http://dx.doi.org/10.3390/genes12040521.

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Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (MCAT) gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve degeneration in childhood, leading to blindness in the first decade of life. After analysing 51 families with negative molecular diagnostic tests, from a cohort of 200 families with hereditary optic neuropathy (HON), we identified two novel MCAT mutations in a female patient who presented with acute, sudden, bilateral, yet asymmetric, central visual loss at the age of 20. This presentation is consistent with a Leber hereditary optic neuropathy (LHON)-like phenotype, whose existence and association with NDUFS2 and DNAJC30 has only recently been described. Our findings reveal a wider phenotypic presentation of MCAT mutations, and a greater genetic heterogeneity of nuclear LHON-like phenotypes. Although MCAT pathological variants are very uncommon, this gene should be investigated in HON patients, irrespective of disease presentation.

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9

Vital, C., J. Julien, M. L. Martin-Negrier, A. Lagueny, X. Ferrer, and A. Vital. "Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON)." Revue Neurologique 171, no. 8-9 (September 2015): 679–80. http://dx.doi.org/10.1016/j.neurol.2015.03.011.

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10

Bargiela, David, and Patrick F. Chinnery. "Mitochondria in neuroinflammation – Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS." Neuroscience Letters 710 (September 2019): 132932. http://dx.doi.org/10.1016/j.neulet.2017.06.051.

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11

Went, L. N. "Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities." Cytogenetic and Genome Research 86, no. 2 (1999): 153–56. http://dx.doi.org/10.1159/000015370.

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12

Vázquez-Justes, Daniel, Lidia Carreño-Gago, Elena García-Arumi, Alicia Traveset, Julio Montoya, Eduardo Ruiz-Pesini, Ricard López, and Luis Brieva. "Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing." Journal of Pediatric Genetics 08, no. 04 (May 28, 2019): 231–34. http://dx.doi.org/10.1055/s-0039-1691812.

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AbstractThis article reports a Leber hereditary optic neuropathy (LHON) case associated for the first time with mitochondrial m.13513G>A mutation. We present a 16-year-old man who complained of subacute, painless, visual loss. Ocular examination showed optic nerve atrophy, papillary pseudoedema, and optic disc pallor. Extraocular manifestations included hypertrophic myocardiopathy and myopathy. Initial genetic analysis excluded the three most common LHON mutations. Sanger sequencing of the whole mitochondrial deoxyribonucleic acid showed no mutation. Next-generation sequencing (NGS) revealed m.13513G>A mutation in the NADH dehydrogenase (ND5) subunit gene (MT-ND5). The m.13513G>A mutation has never been associated with LHON phenotype without Leigh/mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes features. NGS techniques should be considered when this diagnosis is strongly suspected.

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13

Shmelkova, M. S., N. L. Sheremet, I. A. Ronzina, N. A. Andreeva, N. V. Zhorzholadze, Y. K. Murakhovskaya, T. D. Krylova, and P. G. Tsygankova. "The Photopic Negative Response evaluation in patients with Leber's hereditary optic neuropathy." Modern technologies in ophtalmology, no. 2 (June 15, 2021): 216–19. http://dx.doi.org/10.25276/2312-4911-2021-2-216-219.

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Purpose. To assess the retinal ganglion cells function in patients with Leber's hereditary optic neuropathy (LHON) by registering the photopic negative response (PhNR) while the photopic electroretinography is performed. Material and methods. 14 patients with different LHON mutations and 9 healthy individuals were examined. A standard ophtalmological examination was performed, including visual fields, spectral optical coherence tomography, photopic electroretinography and PhNR tests. Results. Significant differences in the PhNR latency (68.4±4.01/64.28±5.37, p<0,01) and the PhNR amplitude (21.5±9.34/32.72±12.73, p<0,003) were revealed in patients with LHON and the control group. The study revealed significant differences between the PhNR latency (р<0.01) and the PhNR amplitude (р<0.008) in patients with visual acuity (VA) ≤ 0.1 and the control group, and between the PhNR amplitude in patients with VA≥0.13 and the control group (р<0.05). There were found significant correlations between the PhNR parameters and visual acuity, mean sensitivity, RNFL and GCC thickness. A strong positive correlation was found between the PhNR amplitude and the GCC thickness in patients with VA≥0.3. Conclusion. The PhNR parameters reflect the retinal ganglion cells function in patients with LHON and correlate with RNFL and GCC structural changes. Key words: Leber hereditary optic neuropathy, mitochondrial optical neuropathies, retinal ganglion cell, photopic negative response, PhNR.

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14

Bocca, Cinzia, Victor Le Paih, Juan Manuel Chao de la Barca, Judith Kouassy Nzoughet, Patrizia Amati-Bonneau, Odile Blanchet, Benoit Védie, et al. "A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies." Human Molecular Genetics 30, no. 1 (January 1, 2021): 21–29. http://dx.doi.org/10.1093/hmg/ddab013.

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Abstract Leber’s hereditary optic neuropathy (LHON) is the most common disorder due to mitochondrial DNA mutations and complex I deficiency. It is characterized by an acute vision loss, generally in young adults, with a higher penetrance in males. How complex I dysfunction induces the peculiar LHON clinical presentation remains an unanswered question. To gain an insight into this question, we carried out a non-targeted metabolomic investigation using the plasma of 18 LHON patients, during the chronic phase of the disease, comparing them to 18 healthy controls. A total of 500 metabolites were screened of which 156 were accurately detected. A supervised Orthogonal Partial Least Squares-Discriminant Analysis (OPLS-DA) highlighted a robust model for disease prediction with a Q2 (cum) of 55.5%, with a reliable performance during the permutation test (cross-validation analysis of variance, P-value = 5.02284e−05) and a good prediction of a test set (P = 0.05). This model highlighted 10 metabolites with variable importance in the projection (VIP) > 0.8. Univariate analyses revealed nine discriminating metabolites, six of which were the same as those found in the Orthogonal Projections to Latent Structures Discriminant Analysis model. In total, the 13 discriminating metabolites identified underlining dietary metabolites (nicotinamide, taurine, choline, 1-methylhistidine and hippurate), mitochondrial energetic substrates (acetoacetate, glutamate and fumarate) and purine metabolism (inosine). The decreased concentration of taurine and nicotinamide (vitamin B3) suggest interesting therapeutic targets, given their neuroprotective roles that have already been demonstrated for retinal ganglion cells. Our results show a reliable predictive metabolomic signature in the plasma of LHON patients and highlighted taurine and nicotinamide deficiencies.

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15

Fadic, R., C. Lobos, M. Schweitzer, and C. Luco. "Mitochondria, DNA mutations in chilean patients with Leber Hereditary Optic Neuropathy (LHON)." Genetics in Medicine 2, no. 1 (January 2000): 104. http://dx.doi.org/10.1097/00125817-200001000-00194.

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Nowomiejska, Katarzyna, Agnieszka Kiszka, Edyta Koman-Wierdak, Katarzyna Tonska, Ryszard Maciejewski, Anselm G. Jünemann, and Robert Rejdak. "Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy." Journal of Ophthalmology 2018 (2018): 1–7. http://dx.doi.org/10.1155/2018/5985702.

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Purpose. To analyse visual field (VF) defects obtained using semiautomated kinetic perimetry (SKP) in patients suffering from Leber hereditary optic neuropathy (LHON). Methods. Twenty-two eyes of eleven consecutive LHON male patients with confirmed mitochondrial 11778G>A DNA mutation were prospectively examined with the V4e stimulus of SKP in both eyes. The mean time after the onset of LHON was one year. The area of obtained isopters was measured in square degrees (deg2). Additionally, static automated perimetry (SAP) within 30° was performed. Results. Visual acuity ranged from counting fingers to 50 cm to 0.4. VFs obtained with SKP showed central scotomas in 18 eyes (82%); the periphery of the VF in these eyes remained intact. The mean area of central scotoma was 408.8 deg2, and the mean area of the peripheral VF was 12291.1 deg2; SAP also revealed central scotoma in these patients. In four eyes (18%) with the worst visual acuity, only the residual central island of VF was found using SKP (mean area 898.4 deg2). SAP was difficult to obtain in these patients. Conclusions. SKP provides additional clinical information in regard to the visual function of LHON patients. SKP enables the quantification of the area of central scotoma, preserved peripheral VF, and residual central island of vision. Using V4 stimulus is especially useful in LHON patients with poor visual acuity, when SAP is difficult to obtain.

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Schollen, Els, Petra Vandenberk, Jean-Jacques Cassiman, and Gert Matthijs. "Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy." Clinical Chemistry 43, no. 1 (January 1, 1997): 18–23. http://dx.doi.org/10.1093/clinchem/43.1.18.

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Abstract We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the products were hybridized to the membrane. Detection is based on chemiluminescence. To test the developed assay, 47 patients suspected of having LHON were screened. In 11 cases (23%) the diagnosis of LHON could be confirmed (3460, 1; 9804, 1; 11778, 5; 14484, 3; 15257, 1). The results suggest that the clinical identification of the mitochondrial defect is not trivial and the availability of a rapid screening method simplifies the molecular analysis of these cases.

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Liutkeviciene, Rasa, Agne Sidaraite, Lina Kuliaviene, Brigita Glebauskiene, Neringa Jurkute, Lina Aluzaite-Baranauskiene, Arvydas Gelzinis, and Reda Zemaitiene. "A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy Due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review." Medicina 57, no. 3 (February 26, 2021): 202. http://dx.doi.org/10.3390/medicina57030202.

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Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15–35 years of age with male predominance. LHON is associated with severe, subacute, painless bilateral vision loss and account for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery is rare and has been reported in patients harbouring m.14484T>C mutation. Up to date LHON treatment is limited. Idebenone has been approved by European Medicines Agency (EMA) to treat LHON. However better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we report on a patient diagnosed with LHON harbouring rare m.11253T>C mutation in MT-ND4 gene, who experienced spontaneous visual recovery. In addition, we summarise clinical presentation, diagnostic features, and treatment.

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Gilhooley, Michael James, Nicholas Owen, Mariya Moosajee, and Patrick Yu Wai Man. "From Transcriptomics to Treatment in Inherited Optic Neuropathies." Genes 12, no. 2 (January 22, 2021): 147. http://dx.doi.org/10.3390/genes12020147.

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Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ultimately loss of vision. They are, therefore, excellent models with which to investigate this ubiquitous disease process—implicated in both common polygenetic ocular diseases (e.g., Glaucoma) and late-onset central nervous system neurodegenerative diseases (e.g., Parkinson disease). In recent years, cellular and animal models of LHON and DOA have matured in parallel with techniques (such as RNA-seq) to determine and analyze the transcriptomes of affected cells. This confluence leaves us at a particularly exciting time with the potential for the identification of novel pathogenic players and therapeutic targets. Here, we present a discussion of the importance of inherited optic neuropathies and how transcriptomic techniques can be exploited in the development of novel mutation-independent, neuroprotective therapies.

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Piotrowska-Nowak, Agnieszka, Maciej R. Krawczyński, Ewa Kosior-Jarecka, Anna M. Ambroziak, Magdalena Korwin, Monika Ołdak, Katarzyna Tońska, and Ewa Bartnik. "Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation." Metabolic Brain Disease 35, no. 8 (August 1, 2020): 1317–27. http://dx.doi.org/10.1007/s11011-020-00605-3.

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Abstract Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of three point mutations in mitochondrial DNA (mtDNA) but their presence is not sufficient for disease development, since ~50% of men and ~10% women who carry them are affected. Thus additional modifying factors must exist. In this study, we use next generation sequencing to investigate the role of whole mtDNA variation in male Polish patients with LHON and m.11778G > A, the most frequent LHON mutation. We present a possible association between mtDNA haplogroup K and variants in its background, a combination of m.3480A > G, m.9055G > A, m.11299 T > C and m.14167C > T, and LHON mutation. These variants may have a negative effect on m.11778G > A increasing its penetrance and the risk of LHON in the Polish population. Surprisingly, we did not observe associations previously reported for m.11778G > A and LHON in European populations, particularly for haplogroup J as a risk factor, implying that mtDNA variation is much more complex. Our results indicate possible contribution of novel combination of mtDNA genetic factors to the LHON phenotype.

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Vetrugno, Roberto, Maria Lucia Valentino, Chiara La Morgia, Rocco Liguori, Sergio Stecchi, Mario Mascalchi, Margherita Fabbri, Pasquale Montagna, and Valerio Carelli. "Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON)." Sleep Medicine 11, no. 4 (April 2010): 426–27. http://dx.doi.org/10.1016/j.sleep.2009.08.007.

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Liao, Chunyan, Neil Ashley, Alan Diot, Karl Morten, Kanchan Phadwal, Andrew Williams, Ian Fearnley, et al. "Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations." Neurology 88, no. 2 (December 14, 2016): 131–42. http://dx.doi.org/10.1212/wnl.0000000000003491.

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Objective:To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls.Methods:Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2 high throughput imaging systems, by visualizing colocalization of mitochondrial fragments with engulfing autophagosomes.Results:Fibroblasts from 3 biallelic OPA1(−/−) patients with severe DOA had increased mitochondrial fragmentation and mitochondrial DNA (mtDNA)–depleted cells due to decreased levels of OPA1 protein. Similarly, in siRNA-treated control fibroblasts, profound OPA1 knockdown caused mitochondrial fragmentation, loss of mtDNA, impaired mitochondrial function, and mitochondrial mislocalization. Compared to controls, basal mitophagy (abundance of autophagosomes colocalizing with mitochondria) was increased in (1) biallelic patients, (2) monoallelic patients with DOA plus, and (3) OPA1 siRNA–treated control cultures. Mitophagic flux was also increased. Genetic knockdown of the mitophagy protein ATG7 confirmed this by eliminating differences between patient and control fibroblasts.Conclusions:We demonstrated increased mitophagy and excessive mitochondrial fragmentation in primary human cultures associated with DOA plus due to biallelic OPA1 mutations. We previously found that increased mitophagy (mitochondrial recycling) was associated with visual loss in another mitochondrial optic neuropathy, Leber hereditary optic neuropathy (LHON). Combined with our LHON findings, this implicates excessive mitochondrial fragmentation, dysregulated mitophagy, and impaired response to energetic stress in the pathogenesis of mitochondrial optic neuropathies, potentially linked with mitochondrial mislocalization and mtDNA depletion.

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Alves, Leonardo S., Fuyun Ji, Mark S. Sharpley, Olga Derbeneva, Dimitra Chalkia, Maria Lvova, Guisheng Qian, Lorna G. Moore, and Douglas C. Wallace. "Leber Hereditary Optic Neuropathy (LHON) associated mutation 3394 is also a high-altitude adaptive polymorphism." Mitochondrion 12, no. 5 (September 2012): 584. http://dx.doi.org/10.1016/j.mito.2012.07.086.

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D'Aguanno, Simona, Alessandra Barassi, Santina Lupisella, Gianlodovico Melzi d'eril, Piero Del Boccio, Damiana Pieragostino, Francesco Pallotti, et al. "Differential cerebro spinal fluid proteome investigation of Leber hereditary optic neuropathy (LHON) and multiple sclerosis." Journal of Neuroimmunology 193, no. 1-2 (January 2008): 156–60. http://dx.doi.org/10.1016/j.jneuroim.2007.10.004.

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25

Kurimoto, Takuji, Kaori Ueda, Sotaro Mori, Seiko Kamada, Mari Sakamoto, Yuko Yamada-Nakanishi, Wataru Matsumiya, and Makoto Nakamura. "A Single-Arm, Prospective, Exploratory Study to Preliminarily Test Effectiveness and Safety of Skin Electrical Stimulation for Leber Hereditary Optic Neuropathy." Journal of Clinical Medicine 9, no. 5 (May 6, 2020): 1359. http://dx.doi.org/10.3390/jcm9051359.

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Leber hereditary optic neuropathy (LHON) is an intractable disease associated with mitochondrial DNA (mtDNA) mutations. In this preliminary, single-arm, prospective, open-label exploratory trial, we investigated the effectiveness and safety of skin electrical stimulation (SES) for cases of LHON harboring the mtDNA 11,778 mutation. Of the 11 enrolled patients, 10 completed six sessions of SES once every two weeks over a 10-week period. The primary outcome measure was the change in logarithm of the minimum angle of resolution (logMAR)-converted best-corrected visual acuity (BCVA) at one week after the last session of SES. The main secondary outcome measures were the logMAR BCVA at four and eight weeks and Humphrey visual field test sensitivities at one, four, and eight weeks. At all follow-up points, the logMAR BCVA had improved significantly from baseline, [1.80 (1.70–1.80) at baseline, 1.75 (1.52–1.80) at one week, 1.75 (1.50–1.80) at four weeks, and 1.75 (1.52–1.80) at eight weeks; p < 0.05]. At eight weeks of follow-up, five patients showed >2-fold increase in the summed sensitivity at 52 measurement points from baseline. No adverse effects were observed. In conclusion, SES could be a viable treatment option for patients with LHON in the chronic phase harboring the mtDNA 11,778 mutation.

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Yu-Wai-Man, Patrick, Nancy J. Newman, Valerio Carelli, Mark L. Moster, Valerie Biousse, Alfredo A. Sadun, Thomas Klopstock, et al. "Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy." Science Translational Medicine 12, no. 573 (December 9, 2020): eaaz7423. http://dx.doi.org/10.1126/scitranslmed.aaz7423.

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REVERSE is a randomized, double-masked, sham-controlled, multicenter, phase 3 clinical trial that evaluated the efficacy of a single intravitreal injection of rAAV2/2-ND4 in subjects with visual loss from Leber hereditary optic neuropathy (LHON). A total of 37 subjects carrying the m.11778G>A (MT-ND4) mutation and with duration of vision loss between 6 to 12 months were treated. Each subject’s right eye was randomly assigned in a 1:1 ratio to treatment with rAAV2/2-ND4 (GS010) or sham injection. The left eye received the treatment not allocated to the right eye. Unexpectedly, sustained visual improvement was observed in both eyes over the 96-week follow-up period. At week 96, rAAV2/2-ND4–treated eyes showed a mean improvement in best-corrected visual acuity (BCVA) of −0.308 LogMAR (+15 ETDRS letters). A mean improvement of −0.259 LogMAR (+13 ETDRS letters) was observed in the sham-treated eyes. Consequently, the primary end point, defined as the difference in the change in BCVA from baseline to week 48 between the two treatment groups, was not met (P = 0.894). At week 96, 25 subjects (68%) had a clinically relevant recovery in BCVA from baseline in at least one eye, and 29 subjects (78%) had an improvement in vision in both eyes. A nonhuman primate study was conducted to investigate this bilateral improvement. Evidence of transfer of viral vector DNA from the injected eye to the anterior segment, retina, and optic nerve of the contralateral noninjected eye supports a plausible mechanistic explanation for the unexpected bilateral improvement in visual function after unilateral injection.

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Hofmann, S. "Wolfram (DIDMOAD) Syndrome and Leber Hereditary Optic Neuropathy (LHON) Are Associated with Distinct Mitochondrial DNA Haplotypes." Genomics 39, no. 1 (January 1, 1997): 8–18. http://dx.doi.org/10.1006/geno.1996.4474.

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Newman, Nancy J., Valérie Biousse, Steven A. Newman, M. Tariq Bhatti, Steven R. Hamilton, Bradley K. Farris, Robert L. Lesser, and Roger E. Turbin. "Progression of Visual Field Defects in Leber Hereditary Optic Neuropathy: Experience of the LHON Treatment Trial." American Journal of Ophthalmology 141, no. 6 (June 2006): 1061–67. http://dx.doi.org/10.1016/j.ajo.2005.12.045.

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Jang, Yoon-ha, and Kwang-il Lim. "Recent Advances in Mitochondria-Targeted Gene Delivery." Molecules 23, no. 9 (September 11, 2018): 2316. http://dx.doi.org/10.3390/molecules23092316.

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Mitochondria are the energy-producing organelles of cells. Mitochondrial dysfunctions link to various syndromes and diseases including myoclonic epilepsy and ragged-red fiber disease (MERRF), Leigh syndrome (LS), and Leber hereditary optic neuropathy (LHON). Primary mitochondrial diseases often result from mutations of mitochondrial genomes and nuclear genes that encode the mitochondrial components. However, complete intracellular correction of the mutated genetic parts relevant to mitochondrial structures and functions is technically challenging. Instead, there have been diverse attempts to provide corrected genetic materials with cells. In this review, we discuss recent novel physical, chemical and biological strategies, and methods to introduce genetic cargos into mitochondria of eukaryotic cells. Effective mitochondria-targeting gene delivery systems can reverse multiple mitochondrial disorders by enabling cells to produce functional mitochondrial components.

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Pätsi, Jukka, Marko Kervinen, Moshe Finel, and Ilmo E. Hassinen. "Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme." Biochemical Journal 409, no. 1 (December 11, 2007): 129–37. http://dx.doi.org/10.1042/bj20070866.

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LHON (Leber hereditary optic neuropathy) is a maternally inherited disease that leads to sudden loss of central vision at a young age. There are three common primary LHON mutations, occurring at positions 3460, 11778 and 14484 in the human mtDNA (mitochondrial DNA), leading to amino acid substitutions in mitochondrial complex I subunits ND1, ND4 and ND6 respectively. We have now examined the effects of ND6 mutations on the function of complex I using the homologous NuoJ subunit of Escherichia coli NDH-1 (NADH:quinone oxidoreductase) as a model system. The assembly level of the NDH-1 mutants was assessed using electron transfer from deamino-NADH to the ‘shortcut’ electron acceptor HAR (hexammine ruthenium), whereas ubiquinone reductase activity was determined using DB (decylubiquinone) as a substrate. Mutant growth in minimal medium with malate as the main carbon source was used for initial screening of the efficiency of energy conservation by NDH-1. The results indicated that NuoJ-M64V, the equivalent of the common LHON mutation in ND6, had a mild effect on E. coli NDH-1 activity, while nearby mutations, particularly NuoJ-Y59F, NuoJ-V65G and NuoJ-M72V, severely impaired the DB reduction rate and cell growth on malate. NuoJ-Met64 and NuoJ-Met72 position mutants lowered the affinity of NDH-1 for DB and explicit C-type inhibitors, whereas NuoJ-Y59C displayed substrate inhibition by oxidized DB. The results are compatible with the notion that the ND6 subunit delineates the binding cavity of ubiquinone substrate, but does not directly take part in the catalytic reaction. How these changes in the enzyme's catalytic properties contribute to LHON pathogenesis is discussed.

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Sartore, M., M. Grasso, G. Piccolo, R. Fasani, R. Bergamaschi, A. Malaspina, M. Ceroni, et al. "Leber′s Hereditary Optic Neuropathy (LHON)-Related Mitochondrial DNA Sequence Changes in Italian Patients Presenting with Sporadic Bilateral Optic Neuritis." Biochemical and Molecular Medicine 56, no. 1 (October 1995): 45–51. http://dx.doi.org/10.1006/bmme.1995.1055.

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32

Wang, Min, Hong Guo, Shiying Li, Gang Wang, Yanling Long, Xiaohong Meng, Bo Liu, Yong Liu, Anthony G. Robson, and Zheng Qin Yin. "Electrophysiological and Structural Changes in Chinese Patients with LHON." Journal of Ophthalmology 2020 (April 1, 2020): 1–9. http://dx.doi.org/10.1155/2020/4734276.

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Objective. To review retrospectively the electrophysiological and structural changes in 13 Chinese patients with Leber hereditary optic neuropathy (LHON). Methods. 26 eyes of 13 patients with a genetically confirmed diagnosis of LHON were categorized into two groups according to the duration of the disease: group 1 (duration less than 3 months) and group 2 (duration between 3 months and 18 years). Clinical history, comprehensive visual electrophysiology, optical coherence tomography (OCT), and color fundus photography were performed. Results. Fundoscopy showed optic disc hyperemia in group 1 and optic atrophy in group 2. OCT measures of retinal nerve fiber layer (RNFL) thickness around the optic disc and surrounding macula were normal in group 1 but reduced in group 2 (10 of 10 eyes). The thickness of the retinal ganglion cell layer (GCL) plus inner plexiform layer (IPL) surrounding the macula reduced significantly in group 1 and group 2 compared with a healthy control group. Pattern ERG (PERG) P50 amplitude was normal, but the N95/P50 ratio reduced in most of group 1 (4 of 5 eyes) and in all of group 2 (11 eyes). PERG P50 peak time was abnormally short in group 2. Multifocal electroretinography (mfERG) showed subnormal responses associated with ring 1 (the central area) and ring 2 in group 1 and reductions in rings 1, 2, and 3 in group 2. Conclusion. The study highlights differences in retinal structure and function between the acute and chronic stages of LHON in a group of Chinese patients. There is PERG evidence of retinal ganglion cell dysfunction and OCT evidence of GCL + IPL thinning in both groups, but there is additional peripapillary RNFL loss in the chronic stage, associated with more severe RGC dysfunction. There is multifocal ERG evidence of localized macular dysfunction in both acute and chronic groups. The study highlights the importance of comprehensive electrophysiological and structural assessments of the retina in LHON and is pertinent to studies that aim to monitor disease progression or the effects of future therapeutic interventions.

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Koilkonda, Rajeshwari D., William W. Hauswirth, Vince Chiodo, Sanford L. Boye, Phillip Gonzalez, and John Guy. "608. Evaluation of Pre-Existing Neutralizing Antibodies Against Tyrosine-Mutant AAV2 in Leber Hereditary Optic Neuropathy (LHON) Patients." Molecular Therapy 23 (May 2015): S241. http://dx.doi.org/10.1016/s1525-0016(16)34217-4.

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Beretta, Simone, Carlo Ferrarese, John P. M. Wood, Neville N. Osborne, and Valerio Carelli. "Pathogenesis of retinal ganglion cell death in Leber hereditary optic neuropathy (LHON): Possible involvement of mitochondria, light and glutamate." Mitochondrion 6, no. 2 (April 2006): 107–8. http://dx.doi.org/10.1016/j.mito.2006.02.002.

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Yu, Hong, Rajeshwari D. Koilkonda, Tsung-Han Chou, Vittorio Porciatti, Arpit Mehta, Ian D. Hentall, Vince A. Chiodo, et al. "Consequences of zygote injection and germline transfer of mutant human mitochondrial DNA in mice." Proceedings of the National Academy of Sciences 112, no. 42 (October 5, 2015): E5689—E5698. http://dx.doi.org/10.1073/pnas.1506129112.

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Considerable evidence supports mutations in mitochondrial genes as the cause of maternally inherited diseases affecting tissues that rely primarily on oxidative energy metabolism, usually the nervous system, the heart, and skeletal muscles. Mitochondrial diseases are diverse, and animal models currently are limited. Here we introduced a mutant human mitochondrial gene responsible for Leber hereditary optic neuropathy (LHON) into the mouse germ line using fluorescence imaging for tissue-specific enrichment in the target retinal ganglion cells. A mitochondria-targeted adeno-associated virus (MTS-AAV) containing the mutant human NADH ubiquinone oxidoreductase subunit 4 (ND4) gene followed by mitochondrial-encodedmCherrywas microinjected into zygotes. Female founders with mCherry fluorescence on ophthalmoscopy were backcrossed with normal males for eight generations. Mutant humanND4DNA was 20% of mouseND4and did not integrate into the host genome. Translated human ND4 protein assembled into host respiratory complexes, decreasing respiratory chain function and increasing oxidative stress. Swelling of the optic nerve head was followed by progressive demise of ganglion cells and their axons, the hallmarks of human LHON. Early visual loss that began at 3 mo and progressed to blindness 8 mo after birth was reversed by intraocular injection of MTS-AAV expressing wild-type humanND4. The technology of introducing human mitochondrial genes into the mouse germ line has never been described, to our knowledge, and has implications not only for creating animal models recapitulating the counterpart human disorder but more importantly for reversing the adverse effects of the mutant gene using gene therapy to deliver the wild-type allele.

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Vandeputte, Justine, Mattias Van Heetvelde, Caroline Van Cauwenbergh, Sara Seneca, Elfride De Baere, Bart P. Leroy, and Julie De Zaeytijd. "Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene." Ophthalmic Genetics 42, no. 4 (April 16, 2021): 440–45. http://dx.doi.org/10.1080/13816810.2021.1913611.

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37

Ishar, Seri Mirianti, Jeyaganesan Pillay a/l Balaraman, Muhammad Jefri Mohd Yusof, Khairul Osman, and Lee Loong Chuen. "Screening of Three Different Alleles of mtDNA (G709A, G3496T, A3537G) in Subpopulation of UKM Students." Malaysian Journal of Medical and Biological Research 5, no. 1 (June 30, 2018): 37–40. http://dx.doi.org/10.18034/mjmbr.v5i1.447.

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Human DNA consists of nucleus DNA (nDNA) and mitochondrial DNA (mtDNA). Both are valuable in medicine and forensic genetics but in this project, single nucleotide polymorphisms (SNPs) in mtDNA are used to trace the mutation occurred. Mutations in the sequence of alleles can lead to haplogroup variation and also certain diseases. The purpose of this study is to screen of mutations on alleles G709A, G3496T, and A3537G in Malay population of The National University of Malaysia (UKM) students. These SNPs lie in the ND1 (nitrogen dehydrogenase subunit 1) coding region, and the reports state that these three alleles are prone to mutate. From MitoMap Web site, the mutations of these alleles are reported to have potential in causing several diseases with the collaboration of other SNPs mutation. Allele G709A is reported to have an association with hearing loss and Leber Hereditary Optic Neuropathy (LHON) while allele G3496T is associated to LHON only. Allele A3537G is related to diabetes. A total of 100 DNA samples were collected from Malay students of UKM and preserved on FTA card to be purified later. The concentration of the DNA on the purified FTA card was between 10μM to 20μM. An attempt was made by amplifying those three loci from the genomic DNA. The amplified product was detected and separated using 1% gel electrophoresis. Before sequencing, the PCR products were visualized under UV light using gel documentation system. All PCR products were sequenced to detect the mutation on every single position chosen. From the alignment of sequencing results, allele G709A and allele G3496T showed no mutation. Meanwhile four samples from alleles A3537G has the mutation. From the results obtained, it seems that mutations are rare in all selected alleles. It is recommended to increase the sample size and alleles selected in the future to increase the strength of the study. This study also should be applied to other populations in Malaysia such as Chinese and Indian.

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Jun, A. S., I. A. Trounce, M. D. Brown, J. M. Shoffner, and D. C. Wallace. "Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia." Molecular and Cellular Biology 16, no. 3 (March 1996): 771–77. http://dx.doi.org/10.1128/mcb.16.3.771.

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A heteroplasmic G-to-A transition at nucleotide pair (np) 14459 within the mitochondrial DNA (mtDNA)-encoded NADH dehydrogenase subunit 6 (ND6) gene has been identified as the cause of Leber hereditary optic neuropathy (LHON) and/or pediatric-onset dystonia in three unrelated families. This ND6 np 14459 mutation changes a moderately conserved alanine to a valine at amino acid position 72 of the ND6 protein. Enzymologic analysis of mitochondrial NADH dehydrogenase (complex I) with submitochondrial particles isolated from Epstein-Barr virus-transformed lymphoblasts revealed a 60% reduction (P < 0.005) of complex I-specific activity in patient cell lines compared with controls, with no differences in enzymatic activity for complexes II plus III, III and IV. This biochemical defect was assigned to the ND6 np 14459 mutation by using transmitochondrial cybrids in which patient Epstein-Barr virus-transformed lymphoblast cell lines were enucleated and the cytoplasts were fused to a mtDNA-deficient (p 0) lymphoblastoid recipient cell line. Cybrids harboring the np 14459 mutation exhibited a 39% reduction (p < 0.02) in complex I-specific activity relative to wild-type cybrid lines but normal activity for the other complexes. Kinetic analysis of the np 14459 mutant complex I revealed that the Vmax of the enzyme was reduced while the Km remained the same as that of wild type. Furthermore, specific activity was inhibited by increasing concentrations of the reduced coenzyme Q analog decylubiquinol. These observations suggest that the np 14459 mutation may alter the coenzyme Q-binding site of complex I.

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Bouquet, Céline, Anne Galy, Serge Fitoussi, Sandrine Meunier, Roxane Noel, Scott Uretsky, Catherine Vignal, José A. sahel, Jean-Philippe Combal, and Nitza Thomasson. "83. Relationship Between Immune Responses and Ocular Inflammation: What Is Learnt from Intravitreal Injection of rAAV2-2-ND4 (GS010) in Non-Human Primates and Leber Hereditary Optic Neuropathy (LHON) Patients." Molecular Therapy 24 (May 2016): S36—S37. http://dx.doi.org/10.1016/s1525-0016(16)32892-1.

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40

Короткова, Д. Г., М. И. Карпова, Г. В. Буянова, and Т. Н. Кашко. "Leber's hereditary optic neuropathy plus, case report." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 7(216) (July 30, 2020): 101–2. http://dx.doi.org/10.25557/2073-7998.2020.07.101-102.

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Наследственная оптическая невропатия Лебера (LHON) - митохондриальное заболевание с атрофией зрительного нерва. Хотя в большинстве случаев LHON других ассоциированных неврологических отклонений нет, сообщалось о случаях LHON plus. В статье представлен анализ клинического случая с проявлением неврологических симптомов в подростковом возрасте. Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of “LHON plus” have been reported. The article presents an analysis of clinical case with the manifestation of neurological symptoms in adolescence.

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41

Low, Adeline, Yee Ling Neoh, Siu Wan Foo, and Azida J. Kadir. "Leber’s hereditary optic neuropathy." Malaysian Journal of Ophthalmology 2, no. 4 (December 14, 2020): 281–87. http://dx.doi.org/10.35119/myjo.v2i4.88.

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Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease caused by several point mutations in mitochondrial DNA. We present the case of a healthy 12-year-old Chinese boy who presented with bilateral, painless, subacute loss of central vision (more severe in the left eye the than right eye) for 1 week. No abnormalities were detected on magnetic resonance imaging of the brain and orbit. Serial Humphrey visual field tests initially showed a centrocaecal scotoma that worsened progressively. Cerebrospinal fluid samples and blood investigations showed normal results. A trial of steroid therapy was commenced with not much improvement in the patient’s vision. A blood sample was then sent for LHON genetic testing and a mitochondrial DNA (mtDNA) G11778A pathogenic mutation was detected. The same mutation was also present in the patient’s mother.

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42

Hudson, Gavin, Patrick Yu-Wai-Man, and Patrick F. Chinnery. "Leber hereditary optic neuropathy." Expert Opinion on Medical Diagnostics 2, no. 7 (July 2008): 789–99. http://dx.doi.org/10.1517/17530059.2.7.789.

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43

Man, P. Y. W. "Leber hereditary optic neuropathy." Journal of Medical Genetics 39, no. 3 (March 1, 2002): 162–69. http://dx.doi.org/10.1136/jmg.39.3.162.

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44

Sadun, Alfredo A., and Federico Sadun. "Leber Hereditary Optic Neuropathy." Ophthalmology 103, no. 2 (February 1996): 201–2. http://dx.doi.org/10.1016/s0161-6420(96)30718-5.

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45

Kerrison, John B., Neil Howell, Neil R. Miller, Lawrence Hirst, and W. Richard Green. "Leber Hereditary Optic Neuropathy." Ophthalmology 102, no. 10 (October 1995): 1509–16. http://dx.doi.org/10.1016/s0161-6420(95)30838-x.

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46

Murray, Jared J., Kaitlyn W. Nolan, Collin McClelland, and Michael S. Lee. "Leber Hereditary Optic Neuropathy." Journal of Neuro-Ophthalmology 37, no. 2 (June 2017): 166–71. http://dx.doi.org/10.1097/wno.0000000000000462.

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47

Nikoskelainen, Eeva K. "Leber hereditary optic neuropathy." Current Opinion in Ophthalmology 2, no. 5 (October 1991): 531–37. http://dx.doi.org/10.1097/00055735-199110000-00003.

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48

Kolářová, Hana, Tomáš Honzík, Ľubica Ďuďáková, Bohdan Kousal, Jan Kulhánek, Pavel Diblík, Markéta Tesařová, et al. "Leber Hereditary Optic Neuropathy." Česká a slovenská neurologie a neurochirurgie 80/113, no. 5 (September 30, 2017): 534–44. http://dx.doi.org/10.14735/amcsnn2017534.

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49

Mazunin, I. O., and N. V. Volodko. "Leber hereditary optic neuropathy." Vestnik oftal'mologii 134, no. 2 (2018): 92. http://dx.doi.org/10.17116/oftalma2018134292-96.

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Hirano, Michio, and Salvatore DiMauro. "Leber Hereditary Optic Neuropathy." Archives of Neurology 62, no. 5 (May 1, 2005): 711. http://dx.doi.org/10.1001/archneur.62.5.711.

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