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Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates

[ Vol. 19 , Issue. 5 ]

Author(s):

Marianna A. Maretina, Galina Y. Zheleznyakova, Kristina M. Lanko, Anna A. Egorova, Vladislav S. Baranov and Anton V. Kiselev *   Pages 339 - 355 ( 17 )

Abstract:


Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the SMN1 gene. Being a monogenic disease, it is characterized by high clinical heterogeneity. Variations in penetrance and severity of symptoms, as well as clinical discrepancies between affected family members can result from modifier genes influence on disease manifestation. SMN2 gene copy number is known to be the main phenotype modifier and there is growing evidence of additional factors contributing to SMA severity. Potential modifiers of spinal muscular atrophy can be found among the wide variety of different factors, such as multiple proteins interacting with SMN or promoting motor neuron survival, epigenetic modifications, transcriptional or splicing factors influencing SMN2 expression. Study of these factors enables to reveal mechanisms underlying SMA pathology and can have pronounced clinical application.

Keywords:

Spinal muscular atrophy, SMN, Genetic modifiers, DNA methylation, Actin cytoskeleton dynamics, Apoptosis.

Affiliation:

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya line, 3, Saint Petersburg 199034, Department of Clinical Neuroscience, Karolinska Institutet, Karolinska Universitetssjukhuset, 171 76 Stockholm, Saint Petersburg State Institute of Technology, Moskovsky prospect, 26, Saint Petersburg 190013, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya line, 3, Saint Petersburg 199034, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya line, 3, Saint Petersburg 199034, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya line, 3, Saint Petersburg 199034

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