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Journal articles on the topic 'Muscular atrophy – Pathogenesis'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Ivanova, E. O., E. Yu Fedotov, and S. N. Illarioshkin. "Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report." Neuromuscular Diseases 10, no. 1 (June 3, 2020): 81–87. http://dx.doi.org/10.17650/2222-8721-2020-10-1-81-87.

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The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes. The main motor manifestations of the spinal and bulbar muscular atrophy are weakness, atrophy and fasciculation of the muscles of the limbs and bulbar group. Traditionally spinal and bulbar muscular atrophy belongs to the group of motor neuron diseases, but in recent years there is increasing evidence of a significant role of primary muscle pathology in the pathogenesis and clinical picture of this disease. This article provides a review of the literature on the pathogenesis, clinical manifestations and diagnosis of the spinal and bulbar muscular atrophy. We present a case report of the spinal and bulbar muscular atrophy with a clinical findings resembling metabolic myopathy.

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2

Merry, Diane E. "Molecular pathogenesis of spinal and bulbar muscular atrophy." Brain Research Bulletin 56, no. 3-4 (November 2001): 203–7. http://dx.doi.org/10.1016/s0361-9230(01)00594-9.

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3

Köstel, A. S., G. Bora-Tatar, and H. Erdem-Yurter. "Spinal muscular atrophy: oxidative stress modulating the pathogenesis?" New Biotechnology 27 (April 2010): S58. http://dx.doi.org/10.1016/j.nbt.2010.01.169.

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4

Simic, Goran. "Pathogenesis of proximal autosomal recessive spinal muscular atrophy." Acta Neuropathologica 116, no. 3 (July 16, 2008): 223–34. http://dx.doi.org/10.1007/s00401-008-0411-1.

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5

Lefebvre, S., and C. Sarret. "Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA)." Archives de Pédiatrie 27, no. 7 (December 2020): 7S3–7S8. http://dx.doi.org/10.1016/s0929-693x(20)30269-4.

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6

Grunseich, C., C. Rinaldi, and KH Fischbeck. "Spinal and bulbar muscular atrophy: pathogenesis and clinical management." Oral Diseases 20, no. 1 (May 9, 2013): 6–9. http://dx.doi.org/10.1111/odi.12121.

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7

Lefebvre, Suzie, Deborah Bartholdi, Pierre Miniou, Arnold Munnich, and Judith Melki. "1-02-11 Spinal muscular atrophy: Etiology and pathogenesis." Journal of the Neurological Sciences 150 (September 1997): S6. http://dx.doi.org/10.1016/s0022-510x(97)84846-0.

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8

Ito, Yasushi, Noriyuki Shibata, Kayoko Saito, Makio Kobayashi, and Makiko Osawa. "New insights into the pathogenesis of spinal muscular atrophy." Brain and Development 33, no. 4 (April 2011): 321–31. http://dx.doi.org/10.1016/j.braindev.2010.06.009.

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9

Gavrichenko, A. V., A. I. Kulyakhtin, A. A. Yakovlev, M. G. Sokolova, A. G. Smochilin, V. S. Fedorova, and R. A. Gapeshin. "Spinal and bulbar muscular atrophy (Kennedy’s disease): case description." Scientific Notes of the Pavlov University 26, no. 3 (February 4, 2020): 86–93. http://dx.doi.org/10.24884/1607-4181-2019-26-3-86-93.

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Kennedy’s X-linked spinal and bulbar muscular atrophy is a rare hereditary lower motoneuron neurodegenerative disease, which is based on the genetic defect of the androgen receptor’s first exon (AR), characterized by an abnormal increase of CAG-repeats. This article describes a clinical case of a patient with complaints about low limb weakness, walking distance shortening to 400–500 meters, coordination disturbances, and moderate polyneuropathy. According to complaints, neurological examination and patient’s family history, a genetic study was performed confirming the proposed diagnosis. Following neurometabolic, vitamin, physical therapy, physiotherapy and acupuncture were performed and the patient’s physical activity increasing and intensity of symptoms reduction was achieved. The article also highlights the features of pathogenesis and the prospects for pathogenetic treatment of this disease.

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10

Kolisnyk, Dmitry, and Natalia Turchyna. "Spinal muscular atrophy – problems of pathogenesis and choice of treatment." ScienceRise: Medical Science, no. 7 (15) (July 31, 2017): 15–20. http://dx.doi.org/10.15587/2519-4798.2017.107795.

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11

Suzuki, Keisuke, Masahisa Kastuno, Haruhiko Banno, and Gen Sobue. "Pathogenesis-targeting therapeutics for spinal and bulbar muscular atrophy (SBMA)." Neuropathology 29, no. 4 (August 2009): 509–16. http://dx.doi.org/10.1111/j.1440-1789.2009.01013.x.

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12

Katsuno, Masahisa, Fumiaki Tanaka, Hiroaki Adachi, Haruhiko Banno, Keisuke Suzuki, Hirohisa Watanabe, and Gen Sobue. "Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)." Progress in Neurobiology 99, no. 3 (December 2012): 246–56. http://dx.doi.org/10.1016/j.pneurobio.2012.05.007.

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13

Anderson, Kirstie, Chris Pouting, Allyson Potter, and Kay Davies. "Motor Neurons and Microarrays-Understanding the Pathogenesis of Spinal Muscular Atrophy." Clinical Science 104, s49 (April 1, 2003): 40P—41P. http://dx.doi.org/10.1042/cs104040pb.

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14

Adachi, H., M. Waza, M. Katsuno, F. Tanaka, M. Doyu, and G. Sobue. "Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy." Neuropathology and Applied Neurobiology 33, no. 2 (April 2007): 135–51. http://dx.doi.org/10.1111/j.1365-2990.2007.00830.x.

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15

Kostova, Felina V., Virginia C. Williams, Jill Heemskerk, Susan Iannaccone, Christine DiDonato, Kathryn Swoboda, and Bernard L. Maria. "Spinal Muscular Atrophy: Classification, Diagnosis, Management, Pathogenesis, and Future Research Directions." Journal of Child Neurology 22, no. 8 (August 2007): 926–45. http://dx.doi.org/10.1177/0883073807305662.

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16

Russman, B. S., S. T. Iannacone, C. R. Buncher, F. J. Samaha, M. White, B. Perkins, L. Zimmerman, C. Smith, K. Burhans, and L. Barker. "Spinal Muscular Atrophy: New Thoughts on the Pathogenesis and Classification Schema." Journal of Child Neurology 7, no. 4 (October 1992): 347–53. http://dx.doi.org/10.1177/088307389200700403.

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17

Bertini, E., and H. Houlden. "Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy." Neurology 82, no. 15 (March 19, 2014): 1298–99. http://dx.doi.org/10.1212/wnl.0000000000000321.

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18

Katsuno, Masahisa, Hiroaki Adachi, Fumiaki Tanaka, and Gen Sobue. "Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives." Journal of Molecular Medicine 82, no. 5 (May 1, 2004): 298–307. http://dx.doi.org/10.1007/s00109-004-0530-7.

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19

Reed, Umbertina Conti, and Edmar Zanoteli. "Therapeutic advances in 5q-linked spinal muscular atrophy." Arquivos de Neuro-Psiquiatria 76, no. 4 (April 2018): 265–72. http://dx.doi.org/10.1590/0004-282x20180011.

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ABSTRACT Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical variability is, in part, related to the SMN2 copy number. By now, only supportive therapies have been available. However, promising specific therapies are currently being developed based on different mechanisms to increase the level of SMN protein; in particular, intrathecal antisense oligonucleotides that prevent the skipping of exon 7 during SMN2 transcription, and intravenous SMN1 insertion using viral vector. These therapeutic perspectives open a new era in the natural history of the disease. In this review, we intend to discuss the most recent and promising therapeutic strategies, with special consideration to the pathogenesis of the disease and the mechanisms of action of such therapies.

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20

D’Amario, Domenico, Aoife Gowran, Francesco Canonico, Elisa Castiglioni, Davide Rovina, Rosaria Santoro, Pietro Spinelli, et al. "Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine." Journal of Clinical Medicine 7, no. 9 (September 19, 2018): 291. http://dx.doi.org/10.3390/jcm7090291.

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Duchenne’s muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.

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21

Ahmad, Saif, Kanchan Bhatia, Annapoorna Kannan, and Laxman Gangwani. "Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy." Journal of Experimental Neuroscience 10 (January 2016): JEN.S33122. http://dx.doi.org/10.4137/jen.s33122.

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Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal muscle atrophy followed by symmetric limb paralysis, respiratory failure, and death. In humans, mutation of the Survival Motor Neuron 1 (SMN1) gene shifts the load of expression of SMN protein to the SMN2 gene that produces low levels of full-length SMN protein because of alternative splicing, which are sufficient for embryonic development and survival but result in SMA. The molecular mechanisms of the (a) regulation of SMN gene expression and (b) degeneration of motor neurons caused by low levels of SMN are unclear. However, some progress has been made in recent years that have provided new insights into understanding of the cellular and molecular basis of SMA pathogenesis. In this review, we have briefly summarized recent advances toward understanding of the molecular mechanisms of regulation of SMN levels and signaling mechanisms that mediate neurodegeneration in SMA.

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22

Katsuno, Masahisa, Hiroaki Adachi, Masahiro Waza, Haruhiko Banno, Keisuke Suzuki, Fumiaki Tanaka, Manabu Doyu, and Gen Sobue. "Pathogenesis, animal models and therapeutics in Spinal and bulbar muscular atrophy (SBMA)." Experimental Neurology 200, no. 1 (July 2006): 8–18. http://dx.doi.org/10.1016/j.expneurol.2006.01.021.

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23

Boyer, Justin G., Marc-Olivier Deguise, Lyndsay M. Murray, Armin Yazdani, Yves De Repentigny, Céline Boudreau-Larivière, and Rashmi Kothary. "Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy." Human Molecular Genetics 23, no. 16 (April 1, 2014): 4249–59. http://dx.doi.org/10.1093/hmg/ddu142.

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24

Banno, Haruhiko, Masahisa Katsuno, Keisuke Suzuki, Fumiaki Tanaka, and Gen Sobue. "Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA)." Cell and Tissue Research 349, no. 1 (April 4, 2012): 313–20. http://dx.doi.org/10.1007/s00441-012-1377-9.

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25

De Paepe, Boel. "Progressive Skeletal Muscle Atrophy in Muscular Dystrophies: A Role for Toll-Like Receptor-Signaling in Disease Pathogenesis." International Journal of Molecular Sciences 21, no. 12 (June 22, 2020): 4440. http://dx.doi.org/10.3390/ijms21124440.

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Muscle atrophy is an active process controlled by specific transcriptional programs, in which muscle mass is lost by increased protein degradation and/or decreased protein synthesis. This review explores the involvement of Toll-like receptors (TLRs) in the muscle atrophy as it is observed in muscular dystrophies, disorders characterized by successive bouts of muscle fiber degeneration and regeneration in an attempt to repair contraction-induced damage. TLRs are defense receptors that detect infection and recognize self-molecules released from damaged cells. In muscular dystrophies, these receptors become over-active, and are firmly involved in the sustained chronic inflammation exhibited by the muscle tissue, via their induction of pro-inflammatory cytokine expression. Taming the exaggerated activation of TLR2/4 and TLR7/8/9, and their downstream effectors in particular, comes forward as a therapeutic strategy with potential to slow down disease progression.

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26

Chen, Tai-Heng. "Circulating microRNAs as potential biomarkers and therapeutic targets in spinal muscular atrophy." Therapeutic Advances in Neurological Disorders 13 (January 2020): 175628642097995. http://dx.doi.org/10.1177/1756286420979954.

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Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterized by the selective loss of particular groups of motor neurons (MNs) in the anterior horn of the spinal cord with progressive muscle wasting. SMA is caused by a deficiency of the survival motor neuron (SMN) protein due to a homozygous deletion or mutation of the SMN1 gene. However, the molecular mechanisms whereby the SMN complex regulates MN functions are not fully elucidated. Emerging studies on SMA pathogenesis have turned the attention of researchers to RNA metabolism, given that increasingly identified SMN-associated modifiers are involved in both coding and non-coding RNA (ncRNA) processing. Among various ncRNAs, microRNAs (miRNAs) are the most studied in terms of regulation of posttranscriptional gene expression. Recently, the discovery that miRNAs are critical to MN function and survival led to the study of dysregulated miRNAs in SMA pathogenesis. Circulating miRNAs have drawn attention as a readily available biomarker due to their property of being clinically detectable in numerous human biofluids through non-invasive approaches. As there are recent promising findings from novel miRNA-based medicines, this article presents an extensive review of the most up-to-date studies connecting specific miRNAs to SMA pathogenesis and the potential applications of miRNAs as biomarkers and therapeutic targets for SMA.

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27

Motyl, Anna A. L., Kiterie M. E. Faller, Ewout J. N. Groen, Rachel A. Kline, Samantha L. Eaton, Leire M. Ledahawsky, Helena Chaytow, et al. "Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy." Human Molecular Genetics 29, no. 16 (July 9, 2020): 2674–83. http://dx.doi.org/10.1093/hmg/ddaa146.

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Abstract Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of whether SMA has presymptomatic, developmental components to disease pathogenesis. We have addressed this by combining micro-computed tomography (μCT) and comparative proteomics to examine systemic pre-symptomatic changes in a prenatal mouse model of SMA. Quantitative μCT analyses revealed that SMA embryos were significantly smaller than littermate controls, indicative of general developmental delay. More specifically, cardiac ventricles were smaller in SMA hearts, whilst liver and brain remained unaffected. In order to explore the molecular consequences of SMN depletion during development, we generated comprehensive, high-resolution, proteomic profiles of neuronal and non-neuronal organs in SMA mouse embryos. Significant molecular perturbations were observed in all organs examined, highlighting tissue-specific prenatal molecular phenotypes in SMA. Together, our data demonstrate considerable systemic changes at an early, presymptomatic stage in SMA mice, revealing a significant developmental component to SMA pathogenesis.

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28

Nery, Flávia C., Jennifer J. Siranosian, Ivy Rosales, Marc-Olivier Deguise, Amita Sharma, Abdurrahman W. Muhtaseb, Pann Nwe, et al. "Impaired kidney structure and function in spinal muscular atrophy." Neurology Genetics 5, no. 5 (August 12, 2019): e353. http://dx.doi.org/10.1212/nxg.0000000000000353.

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ObjectiveTo determine changes in serum profiles and kidney tissues from patients with spinal muscular atrophy (SMA) type 1 compared with age- and sex-matched controls.MethodsIn this cohort study, we investigated renal structure and function in infants and children with SMA type 1 in comparison with age- and sex-matched controls.ResultsPatients with SMA had alterations in serum creatinine, cystatin C, sodium, glucose, and calcium concentrations, granular casts and crystals in urine, and nephrocalcinosis and fibrosis. Nephrotoxicity and polycystic kidney disease PCR arrays revealed multiple differentially expressed genes, and immunoblot analysis showed decreased calcium-sensing receptors and calbindin and increased insulin-like growth factor–binding proteins in kidneys from patients with SMA.ConclusionsThese findings demonstrate that patients with SMA type 1, in the absence of disease-modifying therapies, frequently manifest impaired renal function as a primary or secondary consequence of their disease. This study provides new insights into systemic contributions to SMA disease pathogenesis and the need to identify coadjuvant therapies.

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29

Sleigh, J. N., T. H. Gillingwater, and K. Talbot. "The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy." Disease Models & Mechanisms 4, no. 4 (June 27, 2011): 457–67. http://dx.doi.org/10.1242/dmm.007245.

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30

Grunseich, Christopher, and Kenneth H. Fischbeck. "Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment." Current Opinion in Neurology 33, no. 5 (August 19, 2020): 629–34. http://dx.doi.org/10.1097/wco.0000000000000856.

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31

Guettier-Sigrist, Severine, Gilliane Coupin, Serge Braun, David Rogovitz, Isabelle Courdier, Jean Marie Warter, and Philippe Poindron. "On the possible role of muscle in the pathogenesis of spinal muscular atrophy." Fundamental and Clinical Pharmacology 15, no. 1 (February 5, 2001): 31–40. http://dx.doi.org/10.1046/j.1472-8206.2001.00006.x.

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32

Goldenberg, James N., and Walter G. Bradley. "Testosterone therapy and the pathogenesis of Kennedy's disease (X-linked bulbospinal muscular atrophy)." Journal of the Neurological Sciences 135, no. 2 (February 1996): 158–61. http://dx.doi.org/10.1016/0022-510x(95)00285-a.

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33

Mitkovsky, Valery G., Natalia Yu Ponomareva, Vera V. Makarova, Viktoria S. Milagina, Elena N. Yampol’skaya, and Andrey V. Kochetkov. "Spinal muscular atrophy. Clinical and genetic examination and risk assessments in pregnancy planning (SMA) woman." Journal of Clinical Practice 10, no. 1 (April 25, 2019): 94–100. http://dx.doi.org/10.17816/clinpract10194-100.

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The resulted clinical example of genetic diagnostics of the causes of spinal muscular atrophy in a patient planning fertility. The revealed mutation made it possible to clarify the etiology and pathogenesis of the development of neuromuscular disorders, determine the prognosis of inheritance and prenatal diagnosis, and evaluate the possibilities of adequate treatment.

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34

Wanker, Erich E. "Protein Aggregation and Pathogenesis of Huntingtons Disease: Mechanisms and Correlations." Biological Chemistry 381, no. 9-10 (September 13, 2000): 937–42. http://dx.doi.org/10.1515/bc.2000.114.

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Abstract The formation of insoluble protein aggregates is a hallmark of Huntington's disease (HD) and related neurodegenerative disorders, such as dentatorubral pallidoluysian atrophy (DRPLA), spinal bulbar muscular atrophy (SBMA) and the spinocerebellar ataxia (SCA) type 1, 2, 3, 6 and 7. These disorders are caused by an expanded polyglutamine (polyQ) tract in otherwise unrelated proteins. They are characterized by late-onset, selective neuropathology, a pathogenic polyQ threshold and a relationship between polyQ length and disease progression. Thus, molecular models of HD and related glutamine-repeat disorders must account for these characteristic features. During the last three years, considerable effort has been invested in the development of in vitro and in vivo model systems to study the mechanisms of protein aggregation in glutamine-repeat disorders and its potential effects on disease progression and neurodegeneration. A selection of these studies is reviewed here. Furthermore, the correlation between aggregate formation and development of HD is discussed.

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35

Yee, Jiing-Kuan, and Ren-Jang Lin. "Antisense Oligonucleotides Shed New Light on the Pathogenesis and Treatment of Spinal Muscular Atrophy." Molecular Therapy 20, no. 1 (January 2012): 8–10. http://dx.doi.org/10.1038/mt.2011.275.

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36

Boyer, Justin G., Mélissa Bowerman, and Rashmi Kothary. "The many faces of SMN: deciphering the function critical to spinal muscular atrophy pathogenesis." Future Neurology 5, no. 6 (November 2010): 873–90. http://dx.doi.org/10.2217/fnl.10.57.

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37

Cork, Linda C. "Hereditary Canine Spinal Muscular Atrophy: An Animal Model of Motor Neuron Disease." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 18, S3 (August 1991): 432–34. http://dx.doi.org/10.1017/s0317167100032613.

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ABSTRACT:Motor neuron diseases selectively produce degeneration and death of motor neurons; the pathogenesis of these disorders and the specificity for this population of neurons are unknown. Hereditary Canine Spinal Muscular Atrophy produces a lower motor neuron disease which is clinically and pathologically similar to human motor neuron disease: motor neurons dysfunction and degenerate. The canine model provides an opportunity to investigate early stages of disease when there are viable motor neurons still present and might be responsive to a variety of therapeutic interventions. The canine disease, like the human disease, is inherited as an autosomal dominant. The extensive canine pedigree of more than 200 characterized individuals permits genetic analysis using syntenic linkage techniques which may identify a marker for the canine trait and provide insights into homologous regions for study in human kindreds.

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38

Saladini, Matteo, Monica Nizzardo, Alessandra Govoni, Michela Taiana, Nereo Bresolin, Giacomo P. Comi, and Stefania Corti. "Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights." Journal of Cellular and Molecular Medicine 24, no. 2 (December 4, 2019): 1169–78. http://dx.doi.org/10.1111/jcmm.14874.

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39

Simone, Chiara, Agnese Ramirez, Monica Bucchia, Paola Rinchetti, Hardy Rideout, Dimitra Papadimitriou, Diane B. Re, and Stefania Corti. "Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?" Cellular and Molecular Life Sciences 73, no. 5 (December 18, 2015): 1003–20. http://dx.doi.org/10.1007/s00018-015-2106-9.

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40

Alaqeel, AM, H. Abou Al-Shaar, RK Shariff, and A. Albakr. "The role of RNA metabolism in neurological diseases." Balkan Journal of Medical Genetics 18, no. 2 (December 1, 2015): 5–14. http://dx.doi.org/10.1515/bjmg-2015-0080.

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Abstract Neurodegenerative disorders are commonly encountered in medical practices. Such diseases can lead to major morbidity and mortality among the affected individuals. The molecular pathogenesis of these disorders is not yet clear. Recent literature has revealed that mutations in RNA-binding proteins are a key cause of several human neuronal-based diseases. This review discusses the role of RNA metabolism in neurological diseases with specific emphasis on roles of RNA translation and microRNAs in neurodegeneration, RNA-mediated toxicity, repeat expansion diseases and RNA metabolism, molecular pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia, and neurobiology of survival motor neuron (SMN) and spinal muscular atrophy.

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41

Hashizume, Atsushi, Kenneth H. Fischbeck, Maria Pennuto, Pietro Fratta, and Masahisa Katsuno. "Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)." Journal of Neurology, Neurosurgery & Psychiatry 91, no. 10 (September 15, 2020): 1085–91. http://dx.doi.org/10.1136/jnnp-2020-322949.

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Spinal and bulbar muscular atrophy (SBMA) is a hereditary neuromuscular disorder caused by CAG trinucleotide expansion in the gene encoding the androgen receptor (AR). In the central nervous system, lower motor neurons are selectively affected, whereas pathology of patients and animal models also indicates involvement of skeletal muscle including loss of fast-twitch type 2 fibres and increased slow-twitch type 1 fibres, together with a glycolytic-to-oxidative metabolic switch. Evaluation of muscle and fat using MRI, in addition to biochemical indices such as serum creatinine level, are promising biomarkers to track the disease progression. The serum level of creatinine starts to decrease before the onset of muscle weakness, followed by the emergence of hand tremor, a prodromal sign of the disease. Androgen-dependent nuclear accumulation of the polyglutamine-expanded AR is an essential step in the pathogenesis, providing therapeutic opportunities via hormonal manipulation and gene silencing with antisense oligonucleotides. Animal studies also suggest that hyperactivation of Src, alteration of autophagy and a mitochondrial deficit underlie the neuromuscular degeneration in SBMA and provide alternative therapeutic targets.

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42

Boyd, Penelope J., Wen-Yo Tu, Hannah K. Shorrock, Ewout J. N. Groen, Roderick N. Carter, Rachael A. Powis, Sophie R. Thomson, et al. "Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy." PLOS Genetics 13, no. 4 (April 20, 2017): e1006744. http://dx.doi.org/10.1371/journal.pgen.1006744.

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43

Drott, U., P. Harter, H. Burkhardt, and M. Mittelbronn. "AB1237 Diagnostic value of proteasomal and autophagic markers in muscular diseases." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1909.2–1909. http://dx.doi.org/10.1136/annrheumdis-2020-eular.5897.

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Background:Deficient cellular degradation pathways such as autophagy and the ubiquitin proteasome system (UPS) show a correlation with the onset of neurodegenerative diseases. Especially immune-mediated inflammatory myopathies often show therapy-resistant phenotypes with medical need for further understanding of pathogenesis und possible treatment.Objectives:The aim of this work was to study an association of these two degradation pathways in a large group of different muscle entities and to examine a possible influence in the pathogenesis of the investigated muscle diseases. Furthermore, a potential benefit in diagnostics was studied using factors such as ubiquitin, p62, NBR1 and LC3 and their role as adapter molecules.Methods:We examined ubiquitin, p62, NBR1 and LC3 on muscle biopsies from patients with the diagnosis of s-IBM, dermato- and polymyositis, muscular dystrophy, neurogenic atrophy, myotonic dystrophy type II (PROMM) and metabolic myopathies such as Pompe and McArdle disease. Immunohistochemical single and double stainings as well as immunofluorescence stainings were performed on cryosections. Furthermore, Western blot analysis was performed. The use of a histological score, defined as the product of the frequency of positive fibres and staining intensity, was used to investigate possible differences between the diseases in the expression of the investigated factors.Results:Especially in s-IBM, myofibrillar myopathies and Pompe disease, proteasomal and autophagic markers were detected. On the other hand, neurogenic atrophy, McArdle disease and the majority of the myotonic dystrophies type II showed no positive signals, except for p62, which was detected especially in internalized nuclei and regenerative fibres. Overall, in all entities in regenerative and necrotic as well as in atrophic fibres, a positive staining for ubiquitin, p62, NBR1 and LC3 could be shown. Dermatomyositis showed a moderate immunoreactivity for p62 and NBR1 in the area of the perifascicular atrophy. Polymyositis showed a strong endomysial reaction in the area of the attacked muscle fibres, especially in the area of the lymphocytic infiltrates. The histological score showed that ubiquitin was significantly higher in s-IBM than in polymyositis. NBR1 was significantly higher in s-IBM than in dermatomyositis and muscular dystrophies. LC3 and p62 showed a significantly higher level in s-IBM as compared to dermatomyositis and polymyositis. Except for NBR1, a positive correlation of autophagic and proteasomal markers was shown in dermatomyositis. There was also a positive correlation between LC3 and ubiquitin in polymyositis. Using multivariate analysis and recursive partitioning, we could show a predictability of the diagnosis of s-IBM with a LC3 score above 3. On the other hand, a value below 3 excluded the diagnosis of s-IBM.Conclusion:In particular, s-IBM, myofibrillar myopathies and Pompe disease showed a possible involvement disturbed proteasomal and autophagic degradation pathways in their pathogenesis. In addition, p62 and NBR1 seemed to have an important role in the immune response. Furthermore, the altered autophagic and proteasomal degradation pathways may be involved in ageing processes, sarcopenia and disease. In particular, LC3 seems to be suitable as a screening marker to recognize an idiopathic inflammatory myopathy. The other markers, such as p62, LC3, and NBR1, would be able to distinguish between the subgroups of idiopathic inflammatory myopathies. Therefore, LC3 could be included as a marker in the routine of neuropathological diagnostics. Further studies are needed to fully understand the role of proteasomal and autophagic factors in possible immune suppressive and immune modulatory therapies and to assess possible side effects.Disclosure of Interests:Ulrich Drott: None declared, Patrick Harter: None declared, Harald Burkhardt Grant/research support from: Pfizer, Roche, Abbvie, Consultant of: Sanofi, Pfizer, Roche, Abbvie, Boehringer Ingelheim, UCB, Eli Lilly, Chugai, Bristol Myer Scripps, Janssen, and Novartis, Speakers bureau: Sanofi, Pfizer, Roche, Abbvie, Boehringer Ingelheim, UCB, Eli Lilly, Chugai, Bristol Myer Scripps, Janssen, and Novartis, Michel Mittelbronn: None declared

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Dodge, James C., Christopher M. Treleaven, Joshua Pacheco, Samantha Cooper, Channa Bao, Marissa Abraham, Mandy Cromwell, et al. "Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis." Proceedings of the National Academy of Sciences 112, no. 26 (June 8, 2015): 8100–8105. http://dx.doi.org/10.1073/pnas.1508767112.

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Recent genetic evidence suggests that aberrant glycosphingolipid metabolism plays an important role in several neuromuscular diseases including hereditary spastic paraplegia, hereditary sensory neuropathy type 1, and non-5q spinal muscular atrophy. Here, we investigated whether altered glycosphingolipid metabolism is a modulator of disease course in amyotrophic lateral sclerosis (ALS). Levels of ceramide, glucosylceramide, galactocerebroside, lactosylceramide, globotriaosylceramide, and the gangliosides GM3 and GM1 were significantly elevated in spinal cords of ALS patients. Moreover, enzyme activities (glucocerebrosidase-1, glucocerebrosidase-2, hexosaminidase, galactosylceramidase, α-galactosidase, and β-galactosidase) mediating glycosphingolipid hydrolysis were also elevated up to threefold. Increased ceramide, glucosylceramide, GM3, and hexosaminidase activity were also found in SOD1G93A mice, a familial model of ALS. Inhibition of glucosylceramide synthesis accelerated disease course in SOD1G93A mice, whereas infusion of exogenous GM3 significantly slowed the onset of paralysis and increased survival. Our results suggest that glycosphingolipids are likely important participants in pathogenesis of ALS and merit further analysis as potential drug targets.

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Rietz, Anne, Kevin J. Hodgetts, Hrvoje Lusic, Kevin M. Quist, Erkan Y. Osman, Christian L. Lorson, and Elliot J. Androphy. "Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy." Life Science Alliance 4, no. 1 (November 24, 2020): e202000889. http://dx.doi.org/10.26508/lsa.202000889.

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Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality. SMA results from insufficient survival motor neuron (SMN) protein due to alternative splicing. Antisense oligonucleotides, gene therapy and splicing modifiers recently received FDA approval. Although severe SMA transgenic mouse models have been beneficial for testing therapeutic efficacy, models mimicking milder cases that manifest post-infancy have proven challenging to develop. We established a titratable model of mild and moderate SMA using the splicing compound NVS-SM2. Administration for 30 d prevented development of the SMA phenotype in severe SMA mice, which typically show rapid weakness and succumb by postnatal day 11. Furthermore, administration at day eight resulted in phenotypic recovery. Remarkably, acute dosing limited to the first 3 d of life significantly enhanced survival in two severe SMA mice models, easing the burden on neonates and demonstrating the compound as suitable for evaluation of follow-on therapies without potential drug–drug interactions. This pharmacologically tunable SMA model represents a useful tool to investigate cellular and molecular pathogenesis at different stages of disease.

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Jiang, Xiaoting, Annapoorna Kannan, and Laxman Gangwani. "ZPR1-Dependent Neurodegeneration Is Mediated by the JNK Signaling Pathway." Journal of Experimental Neuroscience 13 (January 2019): 117906951986791. http://dx.doi.org/10.1177/1179069519867915.

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The zinc finger protein ZPR1 deficiency causes neurodegeneration and results in a mild spinal muscular atrophy (SMA)-like disease in mice with reduced Zpr1 gene dosage. Mutation of the survival motor neuron 1 ( SMN1) gene causes SMA. Spinal muscular atrophy is characterized by the degeneration of the spinal cord motor neurons caused by chronic low levels of SMN protein. ZPR1 interacts with SMN and is required for nuclear accumulation of SMN. Patients with SMA express reduced levels of ZPR1. Reduced Zpr1 gene dosage increases neurodegeneration and severity of SMA disease in mice. Mechanisms underlying ZPR1-dependent neurodegeneration are largely unknown. We report that neurodegeneration caused by ZPR1 deficiency is mediated by the c-Jun NH2-terminal kinase (JNK) group of mitogen-activated protein kinases (MAPK). ZPR1-dependent neuron degeneration is mediated by central nervous system (CNS)-specific isoform JNK3. ZPR1 deficiency activates the MAPK signaling cascade, MLK3 → MKK7 → JNK3, which phosphorylates c-Jun and activates caspase-mediated neuron degeneration. Neurons from Jnk3-null mice show resistance to ZPR1-dependent neurodegeneration. Pharmacologic inhibition of JNK reduces degeneration of ZPR1-deficient neurons. These data show that ZPR1-dependent neurodegeneration is mediated by the JNK signaling pathway and suggest that ZPR1 downregulation in SMA may contribute to JNK-mediated neurodegeneration associated with SMA pathogenesis.

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Malacarne, Claudia, Mariarita Galbiati, Eleonora Giagnorio, Paola Cavalcante, Franco Salerno, Francesca Andreetta, Cinza Cagnoli, et al. "Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients." International Journal of Molecular Sciences 22, no. 11 (May 26, 2021): 5673. http://dx.doi.org/10.3390/ijms22115673.

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Motor neuron diseases (MNDs) are neurodegenerative disorders characterized by upper and/or lower MN loss. MNDs include amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and spinal and bulbar muscular atrophy (SBMA). Despite variability in onset, progression, and genetics, they share a common skeletal muscle involvement, suggesting that it could be a primary site for MND pathogenesis. Due to the key role of muscle-specific microRNAs (myomiRs) in skeletal muscle development, by real-time PCR we investigated the expression of miR-206, miR-133a, miR-133b, and miR-1, and their target genes, in G93A-SOD1 ALS, Δ7SMA, and KI-SBMA mouse muscle during disease progression. Further, we analyzed their expression in serum of SOD1-mutated ALS, SMA, and SBMA patients, to demonstrate myomiR role as noninvasive biomarkers. Our data showed a dysregulation of myomiRs and their targets, in ALS, SMA, and SBMA mice, revealing a common pathogenic feature associated with muscle impairment. A similar myomiR signature was observed in patients’ sera. In particular, an up-regulation of miR-206 was identified in both mouse muscle and serum of human patients. Our overall findings highlight the role of myomiRs as promising biomarkers in ALS, SMA, and SBMA. Further investigations are needed to explore the potential of myomiRs as therapeutic targets for MND treatment.

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Goulet, B., R. Kothary, and R. Parks. "At the “Junction” of Spinal Muscular Atrophy Pathogenesis: The Role of Neuromuscular Junction Dysfunction in SMA Disease Progression." Current Molecular Medicine 13, no. 7 (July 1, 2013): 1160–74. http://dx.doi.org/10.2174/15665240113139990044.

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Nedelsky, Natalia B., Maria Pennuto, Rebecca B. Smith, Isabella Palazzolo, Jennifer Moore, Zhiping Nie, Geoffrey Neale, and J. Paul Taylor. "Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy." Neuron 67, no. 6 (September 2010): 936–52. http://dx.doi.org/10.1016/j.neuron.2010.08.034.

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Fulceri, Federica, Francesca Biagioni, Fiona Limanaqi, Carla L. Busceti, Larisa Ryskalin, Paola Lenzi, and Francesco Fornai. "Ultrastructural characterization of peripheral denervation in a mouse model of Type III spinal muscular atrophy." Journal of Neural Transmission 128, no. 6 (May 17, 2021): 771–91. http://dx.doi.org/10.1007/s00702-021-02353-9.

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AbstractSpinal muscular atrophy (SMA) is a heritable, autosomal recessive neuromuscular disorder characterized by a loss of the survival of motor neurons (SMN) protein, which leads to degeneration of lower motor neurons, and muscle atrophy. Despite SMA being nosographically classified as a motor neuron disease, recent advances indicate that peripheral alterations at the level of the neuromuscular junction (NMJ), involving the muscle, and axons of the sensory-motor system, occur early, and may even precede motor neuron loss. In the present study, we used a mouse model of slow progressive (type III) SMA, whereby the absence of the mouse SMN protein is compensated by the expression of two human genes (heterozygous SMN1A2G, and SMN2). This leads to late disease onset and prolonged survival, which allows for dissecting slow degenerative steps operating early in SMA pathogenesis. In this purely morphological study carried out at transmission electron microscopy, we extend the examination of motor neurons and proximal axons towards peripheral components, including distal axons, muscle fibers, and also muscle spindles. We document remarkable ultrastructural alterations being consistent with early peripheral denervation in SMA, which may shift the ultimate anatomical target in neuromuscular disease from the spinal cord towards the muscle. This concerns mostly mitochondrial alterations within distal axons and muscle, which are quantified here through ultrastructural morphometry. The present study is expected to provide a deeper knowledge of early pathogenic mechanisms in SMA.

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