Relevant bibliographies by topics / Leber Hereditary Optic Neuropathy (LHON)

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Academic literature 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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Journal articles on the topic "Leber Hereditary Optic Neuropathy (LHON)"

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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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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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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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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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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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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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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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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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Dissertations / Theses on the topic "Leber Hereditary Optic Neuropathy (LHON)"

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Amaral, Fernandes Marcela Scabello 1969. "Análise comparativa clínica e molecular da neuropatia óptica hereditária de Leber (LHON)." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308881.

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Orientador: Edi Lucia Sartorato
Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas
Made available in DSpace on 2018-08-23T07:24:23Z (GMT). No. of bitstreams: 1 AmaralFernandes_MarcelaScabello_D.pdf: 2548021 bytes, checksum: 4a1e103fa460381f99df5a845fdfec67 (MD5) Previous issue date: 2013
Resumo: A neuropatia óptica hereditária de Leber (LHON) é uma doença mitocondrial, com herança materna, caracterizada pela perda (sub) aguda, indolor e bilateral da visão, escotoma central ou cecocentral e discromatopsia, devido à degeneração do nervo óptico por apoptose das células parvo ganglionares da retina. As três mutações primárias G11778A, T14484C e G3460A são responsáveis por 90 a 95% dos casos da LHON e acometem subunidades dos genes MT-ND4, MT-ND6 e MT-ND1, respectivamente, que codificam proteínas para o complexo I da cadeia respiratória. Somente 5% dos pacientes possuem uma das demais mutações secundárias. A presença da mutação é fundamental para que LHON ocorra, no entanto, a penetrância incompleta e predileção pelo gênero masculino sugerem que fatores genéticos, epigenéticos e ambientais possam modular a expressão fenotípica da doença. O objetivo deste estudo foi analisar clínica e molecularmente para LHON 63 pacientes com neuropatia óptica, sendo 25 com quadro clínico típico de Leber (grupo I) e 38 com neuropatia óptica de etiologia a esclarecer (grupo II), assim como verificar a relação entre os agentes tóxicos tabaco e álcool e uma possível suscetibilidade genética entre os pacientes que faziam uso abusivo destes agentes. Estes pacientes foram submetidos à avaliação oftalmológica completa no ambulatório de neuroftalmologia do HC-UNICAMP e tiveram suas amostras de sangue coletadas e analisadas no CBMEG. A pesquisa das três mutações primárias foi realizada pelas técnicas de restrição enzimática e sequenciamento direto, e confirmada pelo PCR-multiplex e Plataforma Sequenom. Os pacientes que não apresentaram uma das mutações primárias foram rastreados pelo sequenciamento direto e pela Plataforma Sequenom, para oito principais mutações secundárias: G3733A e C4171A (MT-ND1), T10663C (MT-ND4L) e G14459A, C14482G, C14482A, A14495G e C14568T (MT-ND6). Os haplogrupos dos pacientes mutantes foram pesquisados pela Plataforma Sequenom. Dos 63 pacientes com neuropatia óptica foram encontrados 18 pacientes mutantes, sendo 14 do grupo I (11 com G11778A e 3 com T14484C) e 4 do grupo II (3 com G11778A e 1 com T14484C). Os haplogrupos encontrados nestes pacientes mutantes foram: C, D, M, U, e, principalmente L1/L2 e L3, que mostra a presença de ancestral comum de origem asiática, européia e, predominantemente, africana. Nenhum dos pacientes apresentou a mutação primária G3460A, assim como não foi encontrada nenhuma das 8 mutações secundárias rastreadas. Na análise estatística das variáveis estudadas houve diferença significativa para recorrência familiar materna, campo visual e presença de mutação, dentre os 63 pacientes com neuropatia óptica, sendo que achados mostraram que o quadro clínico clássico da doença descrito por Leber há mais de um século tem boa confiabilidade. Ao comparar as mesmas variáveis entre os 14 mutantes do grupo I com os 4 mutantes do grupo II, não houve diferença estatisticamente significativa para nenhuma das variáveis, evidenciando que o diagnóstico de LHON é molecular, através do rastreamento das mutações (inicialmente as primárias). Não foi possível estabelecer relação entre o uso abusivo do tabaco e álcool e uma suscetibilidade genética de base, isto é, a mutação da LHON, entre os pacientes com neuropatia óptica de etiologia a esclarecer e com consumo abusivo destes agentes
Abstract: Leber hereditary optic neuropathy (LHON) is maternally inherited mitochondrial disease, characterized by painless, bilateral, (sub) acute loss of vision, central or cecocentral scotoma and dyschromatopsia, due to the degeneration of optic nerve by the apoptosis of the p-retinal ganglion cells. The three primary mutations G11778A, T14484C and G3460A account for 90 to 95% of the cases of LHON and affect subunits of genes MT-ND4, MT-ND6 and MT-ND1, respectively, which encode proteins of the complex I of the respiratory chain. Only 5% of patients have one of the other secondary mutations. The mutation in mtDNA is essential for LHON occurs, however, the incomplete penetrance and the male predominance of the disease suggests that genetic, epigenetic and environmental factors may modulate the phenotypic expression of LHON. The aim of this study was to analyze clinical and molecularly for LHON 63 patients with optic neuropathy, 25 with classical clinical symptoms of Leber (group I) and 38 with optic neuropathy of unknown etiology (group II), as well as to investigate the relationship between toxic agents tobacco and alcohol and a possible genetic susceptibility among patients who were abusing these agents. These patients underwent complete ophthalmologic evaluation in the Neuro-Ophthalmoloy Outpatient HC-UNICAMP, had their blood samples collected and analyzed in CBMEG. The research of the three primary mutations was performed by restriction analysis and direct sequencing and confirmed by multiplex-PCR and Sequenom Platform. Patients who did not have one of the primary mutations were screened by direct sequencing and by Sequenom Platform for 8 major secondary mutations: G3733A and C4171A (MT-ND1), T10663C (MT-ND4L) and G14459A, C14482G, C14482A, A14495G and C14568T (MT -ND6). The haplogroups of mutant patients were screened by Sequenom Platform. Of 63 patients with optic neuropathy 18 patients were found to be mutants, 14 in group I (11 with G11778A and 3 with T14484C) and 4 in group II (3 with G11778A and 1 with T14484C). The haplogroups found in these mutants patients were: C, D, M, U, and especially L1/L2 and L3, which shows the presence of the common ancestor of Asian, European and, predominantly, African. None of the patients had a primary mutation G3460A, and nor it was found any of the eight secondary mutations screened. Statistical analysis of the variables studied showed significant differences for maternal familial recurrence, visual field and the presence of mutation among the 63 patients with optic neuropathy, demonstrating a good reliability to the classical clinical picture of the disease described by Leber over a century ago. When comparing the same variables among 14 mutants of group I with 4 mutants of group II, there was no statistically significant difference for any of the variables, indicating that the diagnosis of LHON is molecular, by tracking the mutations (initially the primaries ones). No relationship between abusive use of tobacco and alcohol and a genetic-based susceptibility, that is, the mutation for LHON could be correlated in patients with optic neuropathy of unknown etiology and history of heavy consumption of these agents
Doutorado
Oftalmologia
Doutora em Ciências Médicas
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Halas, Sohair. "WN1316, A Novel Anti-Oxidant Compound for the Treatment of Leber's Hereditary Optic Neuropathy (LHON)." Thesis, Université d'Ottawa / University of Ottawa, 2016. http://hdl.handle.net/10393/35144.

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Leber’s Hereditary Optic Neuropathy (LHON) is a devastating mitochondrial disorder that leads to irreversible blindness. A mutation in the mitochondrial ND4 gene causes the majority of cases. Oxidative stress plays a role in disease pathology. WN1316 is a small molecule compound with potent anti-oxidant properties. Using in vitro and in vivo assays, the effectiveness of WN1316 in the treatment of LHON was tested. In vitro, the neuroprotective effects of WN1316 were tested against the oxidative stressors menadione and H2O2. These studies showed that WN1316 can protect SH-SY5Y neuronal cells and 661W photoreceptor-derived cells from oxidative stress in a concentration-dependent manner. Combination therapies with WN1316 and the X-linked Inhibitor of Apoptosis (XIAP) provided even better protection. In vivo, LHON disease had not progressed sufficiently to assess WN1316 effects on retinal function and axon counts. However we saw some delay in disease progression in the WN1316 group using electron microscopy. These initial studies suggest that WN1316 will be effective in the treatment of LHON, but we need to increase the timeline for disease progression to see the full effects of the compound.
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Ågersten, Alexandra. "Diagnosis of Leber’s hereditary optic neuropathy (LHON) : analysis of MT-ND1, MT-ND4 and MT-ND6 in patients with LHON." Thesis, Uppsala University, Department of Medical Biochemistry and Microbiology, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-109492.

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Leber´s hereditary optic neuropathy (LHON), a disease affecting vision, is caused by several point mutations in mitochondrial DNA. Mutations leading to a defect NADH ubiquinone oxidoreductase protein will affect the respiratory chain and cause a disturbed ATP production. It is still unknown why this defect leads to the degeneration of retinal ganglion cells and cells in the opticus nerve as well as demyelination of axons in these areas. Analysis of mitochondrial DNA is an important tool in the diagnosis of the disease. At the present time analysis is based on cleavage by restriction enzymes, which only detects two of the most frequent mutations: m.3460G>A and m.11778G>A. This is far too few considering that more than 30 mutations are known to be associated with LHON. Therefore a new analysis method is requested. Here we describe a method based on the sequencing of the mitochondrial genes MT-ND1, MT-ND4 and MT-ND6, which will detect more than 15 different point mutations associated with the disease. To validate the analysis, DNA from 31 patients with LHON symptoms were sequenced; of these 10 were found to be positive for a LHON mutation. This result indicates that the sequencing analysis will be more effective in diagnosis of LHON than restriction enzymes.


Lebers hereditära optikus neuropati (LHON) är en sjukdom som beror på genetiska förändringar i arvsmassan som leder till att cellens energiomsättning rubbas. Detta gör att nervceller i ögat och synnerven bryts ned vilket leder till en synnedsättning. En patient som drabbas av LHON har inga symptom fram till dess att synen börjar försämras. Sjukdomsförloppet går snabbt och på bara några veckor är patienten ofta helt blind. Diagnostik av LHON idag utgörs av flera undersökningar av öga och synfält. Diagnosen bekräftas av en analys av arvsmassan som finns i mitokondrien, cellens energifabrik. Här beskriver vi en ny förbättrad analysmetod baserad på DNA sekvensering, dvs. bestämning av baserna i mitokondriella arvsmassan. För att utvärdera analysen har vi undersökt 31 patienter med misstänkt LHON - av dessa visade sig 10 bära på en sjuklig förändring. Resultatet visar att sekvensering med fördel kan ersätta den tidigare analysmetoden då fler sjukliga förändringar kan påvisas och utförandet av analysen är mer användarvänligt.

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Harper, Lydia. "Living with leber hereditary optic neuropathy : exploring experiences and perceptions of a disruptive mitochondrial condition." Thesis, Cardiff University, 2018. http://orca.cf.ac.uk/120232/.

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This thesis explores the experiences and perceptions of people living with Leber hereditary optic neuropathy (LHON) and the healthcare professionals charged with diagnosing and treating the condition. LHON is the first disease linked to a mitochondrial mutation, characteristically resulting in bilateral sight loss over a period of 6‒12 weeks from the initial onset and predominantly (but not exclusively) affecting young men in their teens and early twenties. As with other mitochondrial conditions, there is currently no cure for LHON, and treatment options to slow the progress of the condition are limited. Qualitative research exploring the effect of LHON following a sudden and dramatic loss of sight has been absent from the literature. Addressing this gap, my study involves: (1) semi-structured interviews (N=41) with affected men and women, mothers who carry the condition, and genetic ophthalmologists; (2) participant observation over a period of nine months in two genetic ophthalmology clinics located in UK hospitals. Drawing upon key theoretical and empirical contributions from medical sociology and beyond, such as the work of Bury (1982) and Charmaz (1983), I explore the past, present and future lives of people with LHON by describing their chronic illness trajectory. Drawing predominantly on the interview data, I document their experience of the initial symptoms of sight loss, the challenges of receiving a formal diagnosis (as an uncertain, contested and often misdiagnosed condition), the aftermath of receiving a genetic diagnosis for participants and their wider family, and the disruption to everyday, mundane moments in people's daily lives. Moreover, I unpack how people restore their former self-images (Charmaz 1987, 1991), gain control over their lives, and regain some sense of 'normality' (Davis 1995), whilst also reflecting on future aspirations with respect to treatment options and reproductive imaginaries. To conclude, I acknowledge how my thesis contributes to knowledge by uncovering the multi-faceted experience of people living with sudden bilateral sight loss-a group who have, thus far, been invisible in the sociological literature.
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Nord, Emilia. "Optimization of a Multiplex PCR-RFLP Method Used for Detection of Three Primary Mutations in Leber’s Hereditary Optic Neuropathy Patients." Thesis, Uppsala universitet, Institutionen för kvinnors och barns hälsa, 2020. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-412744.

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Leber’s hereditary optic neuropathy (LHON) is the most commonly inherited disease that causes blindness in one or both eyes, with a minimum prevalence of 1 in 31 000 in the northeast of England. What causes LHON is not fully known but three mitochondrial mutations, G3460A, G11778A, and T14484C, have been identified in over 95 % of all LHON patients. To diagnose LHON, detection methods like sequencing, allele specific polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) are used to identify these three mutations. The methods are now evolving into multiplex ones to increase efficiency, the aim of this study was therefore to optimize one of them, a multiplex PCR-RFLP method developed in 2015. This study was however not completed, due to the COVID-19 pandemic, but a series of preparatory steps were performed before its termination. DNA extraction was performed, both genomic and plasmid, using a kit and in-house protocols. The DNA was then used for polymerase chain reactions (PCRs), for both the human β-globin gene and for the three mutations, where magnesium concentration and annealing temperature was optimized. This study resulted in clear, high quality extractions, with the kit as the preferable method. It also indicated that a 3 mM magnesium concentration and an annealing temperature of 59 °C was optimal for all mutations when using so called LHON primers. The conditions for the PCR using the multiplex primers might be different, therefore a new study is required to evaluate the multiplex PCR-RFLP method further.
Bakgrund: Lebers hereditära optikusneuropati (LHON) är en vanlig ärftlig sjukdom som orsakar blindhet. LHON orsakas i över 95 % av fallen av en av tre mitokondriella mutationer, där en byggsten i mitokondriens DNA felaktigt bytts ut mot en annan. Dessa mutationer heter G3460A, G11778A och T14484C. För att diagnostisera sjukdomen detekteras mutationerna, bland annat genom att extrahera DNA från blod, DNA som man sedan skapar otaliga kopior av genom en metod som heter ”polymerase chain reaction” (PCR). Dessa kopior kan sedan klyvas i bitar med hjälp av enzym och baserat på fragmentens storlek kan det avgöras om personen har mutationen eller inte, detta kallas för ”restriction fragment length polymorphism” (RFLP). I nuläget letar man efter en mutation i taget men det har utvecklats några metoder där man kan hitta alla mutationer på en gång och den här studiens syfte var att undersöka hur man på bästa sätt kan utföra en av dessa metoder, en så kallad multiplex PCR-RFLP. Metod: Studien avbröts i förtid på grund av ett pandemiskt utbrott av COVID-19 men hann omfatta DNA-extraktion från humant blod och bakterier med hjälp av ett kommersiellt kit och laboratoriets egna protokoll. Även PCR utfördes för en normal genuppsättning och de tre mutationerna. Resultat och slutsats: Extraktionen gav bra resultat med alla metoder men det kommersiella kitet gav bäst resultat. PCR med det DNA som extraherats fungerade bara ibland vilket gjorde det svårt att dra några större slutsatser, oavsett krävs fler studier för att undersöka metoden eftersom arbetet inte kunde slutföras.
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Kervinen, M. (Marko). "Membranous core domain of Complex I and mitochondrial disease modeling." Doctoral thesis, University of Oulu, 2006. http://urn.fi/urn:isbn:9514281187.

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Abstract Human mitochondria contain a circular genome called mitochondrial DNA (mtDNA). It encodes subunits of the respiratory chain enzymes involved in energy conservation in oxidative phosphorylation and the necessary RNA needed for their expression. Errors in these genes have been shown to cause diseases, called mitochondrial diseases, which mainly affect tissues with high energy-demand, such as brain, heart, and skeletal muscle, or to lead to the production of harmful by-products in the form of reactive oxygen species (ROS) during cellular respiration. ROS damage lipids, proteins, and DNA, especially mtDNA. Accumulation of mtDNA mutations has also been associated with aging. Mitochondrial complex I is located in the inner mitochondrial membrane and catalyzes NADH-ubiquinone oxidoreduction coupled to the translocation of four protons from the inside of the mitochondrion to the intermembranous space. Bacteria contain a homologous but simpler enzyme, NDH-1, with the same catalytic mechanism and which is therefore considered the catalytical core of mitochondrial complex I. Seven of the conserved membranous subunits in complex I are encoded in the mtDNA and are targets for mutations causing mitochondrial diseases, like MELAS syndrome or Leber hereditary optic neuropathy (LHON). We used Paracoccus denitrificans and Escherichia coli NDH-1 enzymes to reveal the role of selected conserved charged residues and MELAS or LHON amino acid substitutions in enzyme catalysis. The growth phenotypes and NDH-1-dependent activities in mutant bacterial membranes were characterized, in addition to the sensitivity to selected complex I inhibitors. In order to enable ROS production measurements in the bacterial model of human mitochondrial diseases, we evaluated the reliability of two superoxide detecting probes, lucigenin and coelenterazine. Elimination of the acidic residue in ND1 (position E228) previously found to cause MELAS, was found detrimental for NDH-1 assembly and activity. Also, elimination of the acidic residue at position E36 in ND4L resulted in an inactive enzyme. ND1-E216A, ND4L-E72Q and -E36Q/I39D/A69D/E72Q substitutions decreased NDH-1 activity somewhat (normal activity in the last mutant), but displayed a negative growth phenotype under NDH-1 dependent conditions, suggestive of impaired energy conservation in these mutants. ND1-Y229, whose substitution causes MELAS, charged residues in loop five of ND1, and ND1-E157, whose substitution causes LHON, were also found important for the enzyme activity. Coelenterazine was found a reliable probe for quantitative superoxide production measurement in mitochondrial or bacterial membranes, and its sensitivity is not affected by the reduction level of the respiratory chain. Therefore, coelenterazine is suitable for quantitative superoxide production measurements.
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Chao, de la Barca Juan Manuel. "Approche métabolomique des maladies dégénératives de la rétine et du nerf optique. : neuropathie optique héréditaire de Leber, athropie optique dominante et préconditionnement rétinien induit par la lumière The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress Metabolic signature of remote ischemic preconditioning involving a cocktail of amino acids and biogenic amines." Thesis, Angers, 2016. http://www.theses.fr/2016ANGE0069.

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Nous avons réalisé une approche métabolomique ciblée par spectrométrie de masse, avec quantification de 188 métabolites incluant des lipides et des molécules polaires. Trois processus physiopathologiques en rapport avec la rétine et le nerf optique ont été étudiés : la neuropathie optique héréditaire de Leber (NOHL), l’atrophie optique autosomique dominante (AOD) par haplo-insuffisance du gène OPA1 et le préconditionnement rétinien induit par la lumière (PRIL). Les principaux résultats sont : Projet NOHL : Le pool des acides aminés et la concentration de certaines sphingomyélines (SM) sont diminués tandis que la concentration de 10 phosphatidylcholines (PC) est augmentée dans les fibroblastes des porteurs d’une mutation de type NOH. Les fibroblastes des patients atteints d’une NOHL ont montré un stress du réticulum endoplasmique réversible pharmacologiquement. Projet AOD : Les variations dans la concentration de certains lipides, du glutamate et de quelques métabolites polaires neuroprotecteurs ont suggéré une altération de la myéline et une dysfonction métabolique axonale pré-symptomatique dans le nerf optique des souris Opa1+/-. Un dimorphisme sexuel a été observé dans le métabolome du nerf optique des souris. Projet PRIL : Le stimulus lumineux préconditionnant semble provoquer un accroissement de la protéolyse et une diminution du monoxyde d’azote dans la rétine. Le stress photique parait associé à un remodelage des lipides rétiniens. Un dimorphisme sexuel a été observé dans le métabolome rétinien des rats contrôles. Ces résultats montrent que l'approche métabolomique est pertinente pour l'étude physiopathologique des maladies oculaires
We have conducted a mass spectrometry targeted metabolomics approach, enabling us to quantify 188 metabolites including lipids and more polar molecules. Three condition related to the retina and the optic nerve have been studied: Leber hereditary optic neuropathy (LHON), dominant optic atrophy (DOA) due to OPA1 haploinsufficiency and retina light-induced preconditioning (RLIP). The main results we obtained are: LHON project: Concentrations of the whole pool of amino acid and some sphingomyelins (SM) were diminished whereas those of ten phosphatidylcholines (PC)were increased in fibroblasts carrying a LHON mutation. Fibroblasts from LHON-affected patients showed pharmacologically reversible endoplasmic reticulum stress. DOA project: Variations in the concentration of some lipids, glutamate and polar neuroprotective metabolites suggested pre-symptomatic alterations of the myelin sheath along with axonal metabolic dysfunction of the optic nerve in Opa1 +/-mice. A sexual dimorphism was also observed in the metabolome of the optic nerve. RLIP project: Preconditioning light seemed to elicit acute proteolysis and decreased NO production in the retina. Light stress was also related with lipid remodeling in the retina. A sexual dimorphism was also observed in the retina of control rats. Taken as a whole, our results show that the metabolomics approach is adapted and relevant for the study of the physiopathology of ocular diseases
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Pätsi, J. (Jukka). "Catalytic core of respiratory chain NADH-ubiquinone oxidoreductase:roles of the ND1, ND6 and ND4L subunits and mitochondrial disease modelling in Escherichia coli." Doctoral thesis, Oulun yliopisto, 2011. http://urn.fi/urn:isbn:9789514294723.

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Abstract NADH-ubiquinone oxidoreductase (complex I) is one of the largest enzymes in mammals. Seven (ND1-ND6 and ND4L) of its 45 subunits are encoded in mitochondrial DNA, mutations of which are usually behind mitochondrial diseases such as Leber hereditary optic neuropathy (LHON) and MELAS-syndrome. The rest of the genes are located in the nucleus. Bacterial homologs of complex I (NDH-1) consist of only 13–14 subunits, comprising the catalytic core of the enzyme. These complexes are simpler but perform a similar function. Escherichia coli NDH-1 was employed here to generate amino acid replacements at conserved sites in NuoH, NuoJ and NuoK, counterparts of ND1, ND6 and ND4L, to elucidate their role in complex I. Consequences of homologous amino acid substitutions brought about by ND1-affecting LHON/MELAS-overlap syndrome-associated m.3376G>A and m.3865A>G mutations and the ND6-affecting m.14498T>C substitution associated with LHON were also studied to validate their pathogenicity. Effects of the site-directed mutations were evaluated on the basis of enzyme activity, inhibitor sensitivity and growth phenotype. Highly conserved glutamate-residues 36 and 72 within transmembrane helices of NuoK in positions similar to proton translocating transmembrane proteins were found essential for electron transfer to ubiquinone and growth on medium necessitating normal proton transfer by NDH-1. NuoH and NuoJ replacements at sites corresponding to targets of m.3376G>A and m.14498T>C decreased ubiquinone reductase activity and altered the ubiquinone binding site, while the counterpart of m.3865A>G was without a major effect. Other NuoH and NuoJ mutations studied also affected the interactions of ubiquinone and inhibitors with NDH-1. The results corroborate the pathogenicity of the m.14498T>C and m.3376G>A mutations and demonstrate that the overlap syndrome-associated modification affects complex I in a pattern which appears to combine the effects of separate mutations responsible for LHON and MELAS. Change in ubiquinone binding affinity is a likely pathomechanism of all LHON-associated mutations. Effects of the NuoH, NuoJ and NuoK subunit substitutions also indicate that ND1 and ND6 subunits contribute to the ubiquinone-interacting site of complex I and the site is located in the vicinity of the membrane surface, while ND4L is likely involved in proton pumping activity of the enzyme
Tiivistelmä 45 alayksiköstä muodostuva NADH-ubikinoni oksidoreduktaasi (kompleksi I) on nisäkkäiden suurimpia entsyymejä. Sen mitokondriaalisessa DNA:ssa koodattujen alayksiköiden ND1-ND6 ja ND4L geeneihin liittyvät mutaatiot ovat yleisiä mitokondriosairauksien, kuten Leberin perinnöllisen näköhermoatrofian (LHON) ja MELAS-oireyhtymän, syitä. Bakteerien vastaava entsyymi (NDH-1) koostuu vain 13–14 alayksiköstä. Tästä huolimatta sen katalysoima reaktio on samankaltainen kuin kompleksi I:n. NDH-1:n katsotaankin edustavan entsyymin katalyyttistä ydintä. Tässä työssä tutkittiin ND1, ND6 ja ND4L alayksiköiden tehtävää kompleksi I:ssä niiden Escherichia coli bakteerissa olevien vastineiden (NuoH, NuoJ ja NuoK) kohdennetun mutageneesin avulla. Samaa lähestymistapaa käytettiin LHON/MELAS-oireyhtymässä todettujen ND1 alayksikön mutaatioiden, m.3376G>A ja m.3865A>G, ja LHON:ssa havaitun ND6:n m.14498T>C mutaation aiheuttamien aminohappomuutosten seurauksien selvittämiseen. Tehtyjen mutaatioiden vaikutuksia arvioitiin entsyymiaktiivisuus-mittauksin ja kasvukokein. NuoK:n solukalvon läpäisevissä rakenteissa olevien kahden glutamaatti-aminohappotähteen sijainti muistuttaa protoneita kalvon läpi kuljettavissa proteiineissa todettua. NuoK:n glutamaattien havaittiinkin olevan tärkeitä elektronien ja protonien kuljetukselle kompleksi I:ssä. m.3376G>A ja m.14498T>C mutaatioiden aiheuttamien aminohappomuutosten vastineet NDH-1:ssä alensivat NDH-1:n elektroninsiirtoaktiivisuutta ja heikensivät ubikinonin sitoutumista, kun taas m.3865A>G mutaatiolla ei ollut vaikutusta. Muut NuoH ja NuoJ alayksiköihin tehdyt aminohappovaihdokset johtivat huonontuneeseen ubikinonin ja kompleksi I:n inhibiittoreiden sitoutumiseen. Saadut tulokset vahvistavat m.3376G>A ja m.14498T>C mutaatioiden patogeenisyyden. Ne myös osoittavat, että LHON/MELAS-oireyhtymään liitetyn mutaation biokemiallisissa vaikutuksissa yhdistyvät sekä LHON:ssa että MELAS-oireyhtymässä todettujen mutaatioiden seuraukset. Esitetyt tulokset tukevat näkemystä siitä, että ubikinonin ja kompleksi I:n välisessä vuorovaikutuksessa tapahtuva muutos on kaikille LHON:aan liitetyille mutaatioille yhteinen vaikutusmekanismi. NuoH:n, NuoJ:n ja NuoK:n kohdennetusta mutageneesista saatujen tulosten perusteella ND1 ja ND6 alayksiköt ovat osa ubikinonin sitoutumispaikkaa entsyymikompleksissa, kun taas ND4L osallistuu protoninkuljetukseen
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Kolářová, Hana. "Studium vývojových,biochemických a molekulárních aspektů vybraných vzácných onemocnění v dětském věku." Doctoral thesis, 2018. http://www.nusl.cz/ntk/nusl-375107.

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Inborn errors of metabolism represent a heterogenous group of rare conditions, most having an incidence of less than 1 in 100,000 births. Because of their low prevalence, they are on the margin of attention of general research and even more so of large pharmaceutical companies. Study of rare diseases is the only way to design therapeutic options in order to improve quality of life of affected patients. Present Thesis particularly focuses on disturbances in mitochondrial energy metabolism. The main goals were the characterization of mitochondrial biogenesis within foetal development, as well as in childhood and adulthood. Another aim was to define clinical, biochemical and molecular aspects of mitochondrial optic neuropathies in childhood and adulthood. This work supported the earlier observations that gestational week 22 is the edge of viability, which has to be taken into account in upcoming discussions about guidelines on resuscitation of preterm neonates. Secondly, over last four years, we managed to examine and describe large cohort of patients with optic neuropathies based on a mitochondrial dysfunction. We have managed to characterize the biochemical and molecular-genetic background in more than 200 patients, and both selected cases (LHON/MELAS overlap syndrome) and cohort studies (MELAS,...
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Fonseca, Maria Inês Arêlo Manso da. "Functional Investigation of OXPHOS assembly factors in Leber’s Hereditary Optic Neuropathy." Master's thesis, 2016. http://hdl.handle.net/10316/34047.

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FONSECA, Maria Inês Arêlo Manso da - Functional Investigation of OXPHOS assembly factors in Leber’s Hereditary Optic Neuropathy. Coimbra : [s.n.], 2016. Dissertação de Mestrado
Mitochondrial cytopathies comprise a heterogeneous group of multisystem disorders related to mitochondrial dysfunction and deficiency in ATP production. The tissues more susceptible to this impairment are those that require more energy for their maintenance and function, such as the nervous system having a higher number of mitochondria per cell. The energy dysfunction may occur in one or more complexes of the mitochondrial respiratory chain (MRC). Since MRC subunits are encoded by both nuclear genome (nDNA) and mitochondrial DNA (mtDNA), the pathology may be caused by diverse types of mutations in one or both genomes. Accordingly, mutations in mtDNA, although responsible for a significant number of pathologies, may exhibit incomplete "penetrance", suggesting the involvement of other factors such as mtDNA haplogroups, nDNA single nucleotide polymorphisms (SNPs), or alcohol, tobacco and other environmental factors. Leber’s hereditary optic neuropathy (LHON) is one of the most common mitochondrial cytopathies. It is mainly characterized by degeneration of retinal ganglion cells, causing blindness in young males. It is estimated that ~70% of LHON cases are due to the point mutation m.11778G>A that is responsible for encoding the ND4 Complex I (CI) subunit. However, mtDNA mutations do not always explain the incomplete “penetrance” verified. Accordingly, it may be predicted that mutations in nDNA may play a synergistic role with mtDNA alterations for causing a severe biochemical defect. Moreover, modifications in nDNA coding for mitochondrial factors of major importance to the assembly, stability and maintenance of the MRC, may lead to an imbalance in oxidative phosphorylation (OXPHOS)-dependent energy production, compromising mitochondrial function. The assembly factors, despite not being part of MRC structure, play a crucial role in the correct complexes assembly for an adequate energy production. Therefore, the present study aims to clarify the role of MRC assembly in LHON, pathology, related to the presence and absence of the m.11778G>A mutation. A genetic, structural, and functional set of analyses were performed. The results show that, in patients harbouring the referred primary LHON mutation, the CI activity is highly reduced. The analysis of the MRC complexes’ assembly status allowed to observe that patients 1 and 4 present impaired assembly of CI, and patient 4 also shows decreased assembled CV. The genetic analysis of the assembly factors revealed a promising sequence variation only in patient 1, under characterization.In conclusion, the present results are a promising and the impairment of the MRC assembly may be an important issue to consider in LHON, although there are other factors to be taken into account in the pathological mechanism underlying the disease.
As citopatias mitocondriais incluem um grupo heterogéneo de doenças multissistémicas associadas à disfunção mitocondrial, o que leva a uma insuficiência na produção de ATP. Os tecidos que requerem maiores níveis de energia para a sua manutenção e funcionamento, como o sistema nervoso, apresentam um maior número de mitocôndrias por célula, sendo os mais afetados. Os défices energéticos podem afetar um ou mais complexos da cadeira respiratória mitocondrial (MRC). Dado que as subunidades dos complexos da MRC são codificadas, tanto por DNA nuclear (nDNA), como por DNA mitocondrial (mtDNA), estas doenças podem ter origem em mutações localizadas em um ou nos dois genomas. Consequentemente, mutações no mtDNA embora responsáveis por um número significativo de patologias, podem exibir “penetrância incompleta”, sugerindo que existem outros fatores envolvidos, tais como haplogrupos mitocondriais, polimorfismos (SNPs), consumo de álcool, tabaco e fatores ambientais. A neuropatia ótica hereditária de Leber (LHON) é uma das citopatias mitocondriais mais frequentes. É caraterizada principalmente pela degenerescência das células ganglionares da retina (RGC), causando cegueira, principalmente em adultos jovens do sexo masculino. Estima-se que cerca de 70% dos casos de LHON sejam devidos à mutação m.11778G>A, que codifica a subunidade ND4 do complexo I (CI). Contudo, as mutações no mtDNA não explicam sempre a existência de “penetrância incompleta”. Assim, prevê-se que alterações no nDNA, em sinergia com mutações no mtDNA possam gerar um fenótipo bioquímico grave. Para além disso, modificações no nDNA, em fatores mitocondriais, podem levar à função alterada de proteínas importantes para a montagem, estabilidade e manutenção da MRC, comprometendo a função mitocondrial normal e a produção de energia na fosforilação oxidativa (OXPHOS). Os fatores de assembly, embora não façam parte da estrutura final da MRC, fazem parte do grupo de fatores codificados pelo nDNA e têm um papel fundamental para que a montagem dos complexos seja eficaz, de modo a assegurar uma produção de energia adequada. Assim, o presente estudo tem como objetivo clarificar o papel do assembly da MRC na patologia da LHON relacionada com a presença ou ausência da mutação m.11778G>A. Foi realizado um estudo genético, estrutural e funcional. Os resultados mostram que, em doentes com a mutação primária, a atividade do CI é mais baixa. A análise do estado de assembly dos complexos da MRC permitiuobservar que os doentes 1 e 4 têm alteração do assembly do CI, e que o doente 4 apresenta também decréscimo no assembly do CV. A análise genética do doente 1 revelou uma alteração muito promissora num dos fatores de assembly, que se encontra em caraterização. Em conclusão, os resultados do presente trabalho são promissores e a falha no assembly da MRC parece ser um importante parâmetro a considerar na LHON, embora haja outros fatores a ter em conta nos mecanismos patogénicos subjacentes à manifestação da doença.
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Books on the topic "Leber Hereditary Optic Neuropathy (LHON)"

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Parker, James N., and Philip M. Parker. Leber hereditary optic neuropathy: A bibliography and dictionary for physicians, patients, and genome researchers [to Internet references]. San Diego, CA: ICON Health Publications, 2007.

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Book chapters on the topic "Leber Hereditary Optic Neuropathy (LHON)"

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Law, Nathan, Sumayya J. Almarzouqi, Michael L. Morgan, and Andrew G. Lee. "Leber Hereditary Optic Neuropathy." In Encyclopedia of Ophthalmology, 1–2. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-35951-4_1202-1.

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Law, Nathan, Sumayya J. Almarzouqi, Michael L. Morgan, and Andrew G. Lee. "Leber Hereditary Optic Neuropathy." In Encyclopedia of Ophthalmology, 1046–47. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_1202.

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Chen, Harold. "Mitochondrial Leber Hereditary Optic Neuropathy." In Atlas of Genetic Diagnosis and Counseling, 1857–70. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_158.

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Chen, Harold. "Mitochondrial Leber Hereditary Optic Neuropathy." In Atlas of Genetic Diagnosis and Counseling, 1–14. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_158-2.

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Yu-Wai-Man, Patrick, and Byron L. Lam. "Treatment of Leber Hereditary Optic Neuropathy." In Neuro-Ophthalmology, 201–7. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-98455-1_14.

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Wallace, Douglas C., and Marie T. Lott. "Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease." In Handbook of Experimental Pharmacology, 339–76. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/164_2017_2.

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Bursle, C., K. Riney, J. Stringer, D. Moore, G. Gole, L. S. Kearns, D. A. Mackey, and D. Coman. "Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis." In JIMD Reports, 53–60. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/8904_2017_79.

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Bi, Rui, Ian Logan, and Yong-Gang Yao. "Leber Hereditary Optic Neuropathy: A Mitochondrial Disease Unique in Many Ways." In Handbook of Experimental Pharmacology, 309–36. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/164_2016_1.

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Xie, Kunpeng, Shuai Ming, Mingzhu Yang, Xuemin Jin, and Bo Lei. "Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Leber Hereditary Optic Neuropathy." In Essentials in Ophthalmology, 273–78. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-13-0884-0_22.

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"Leber Hereditary Optic Neuropathy (LHON)." In Encyclopedia of Ophthalmology, 1047. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_100992.

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