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

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

Volume: 19 Issue: 5

Author(s): Marianna A. Maretina, Galina Y. Zheleznyakova, Kristina M. Lanko, Anna A. Egorova, Vladislav S. Baranov and Anton V. Kiselev *

Affiliation:

• D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya line, 3, Saint Petersburg 199034,Russian Federation

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

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.

Cite this article as:

Maretina A. Marianna , Zheleznyakova Y. Galina , Lanko M. Kristina , Egorova A. Anna , Baranov S. Vladislav and Kiselev V. Anton *, Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates, Current Genomics 2018; 19 (5) . https://dx.doi.org/10.2174/1389202919666180101154916