Molecular mechanism of neurodegeneration in spinal muscular atrophy

In the last decade, pathogenetic methods for the treatment of spinal muscular atrophy 5q have been developed. These include increased expression of the SMN2 gene, correction of SMN2 splicing, or reexpression of the SMN1 gene. Despite the comprehension of the genetic causes of the disease and the exi...

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Bibliographic Details
Published inNervno-myshechnye bolezni Vol. 14; no. 3; pp. 72 - 80
Main Authors Vlasenko, A. I., Nazarov, V. D., Lapin, S. V., Mazing, A. V., Surkova, E. A., Blinova, T. V., Topuzova, M. P., Alekseeva, T. M.
Format Journal Article
LanguageEnglish
Russian
Published ABV-press 18.09.2024
Subjects
molecular genetic mechanism
motoneuron survival protein
smn1
smn2
spinal muscular atrophy 5q
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Summary:In the last decade, pathogenetic methods for the treatment of spinal muscular atrophy 5q have been developed. These include increased expression of the SMN2 gene, correction of SMN2 splicing, or reexpression of the SMN1 gene. Despite the comprehension of the genetic causes of the disease and the existence of therapies, it is still not completely known which molecular mechanisms in SMN protein deficiency lead to the degeneration of motor neurons. Understanding the molecular pathways involved in the loss of motor neurons may help develop new therapeutic strategies. The article presents genetic and biochemical data that reveal the molecular mechanisms of neurodegeneration in spinal muscular atrophy 5q.
ISSN:2222-8721
2413-0443
DOI:10.17650/2222-8721-2024-14-3-72-80