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

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 resu...

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Bibliographic Details
Published in:Current genomics 2018-01, Vol.19 (5), p.339-355
Main Authors: Maretina, Marianna A, Zheleznyakova, Galina Y, Lanko, Kristina M, Egorova, Anna A, Baranov, Vladislav S, Kiselev, Anton V
Format: Article
Language:English
Subjects:
Atrophy
Copy number
Epigenetics
Medicin och hälsovetenskap
Molecular chains
Mutation
Phenotypes
Proteins
SMN protein
Spinal muscular atrophy
Splicing
Splicing factors
Transcription factors
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Summary: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.
ISSN:1389-2029
1875-5488
DOI:10.2174/1389202919666180101154916