Open AccessGenetics of familial amyotrophic lateral sclerosis
Author(s) -
А. В. Савинова,
Natalia A. Shnayder,
Р. Ф. Насырова
Publication year - 2021
Publication title -
bûlletenʹ sibirskoj mediciny
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.135
H-Index - 3
eISSN - 1819-3684
pISSN - 1682-0363
DOI - 10.20538/1682-0363-2021-3-193-202
Subject(s) - amyotrophic lateral sclerosis , tardbp , c9orf72 , sod1 , disease , neuroscience , excitotoxicity , genetics , molecular genetics , biology , medicine , gene , frontotemporal dementia , bioinformatics , pathology , dementia , glutamate receptor , receptor
To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words “amyotrophic lateral sclerosis”, “FALS”, and “genetics” in the literature for the past 10 years in both Russian and English in eLibrary, PubMed, Web of Science, and OMIM databases. In addition, the review includes earlier publications of historical interest.This review summarizes all existing information on four most widespread genes associated with FALS: SOD1 , TARDBP , FUS, and C9ORF72 . The review also describes the functions of these genes and possible pathogenetic mechanisms of motor neuron death in amyotrophic lateral sclerosis (ALS), such as mitochondrial dysfunction, oxidative stress, glutamate excitotoxicity, damage to axonal transport components, and pathological neurofilament aggregation.As modern methods of molecular genetic diagnostics evolve, our knowledge about multifactorial FALS genetics expands. This information should be taken into consideration in clinical practice of neurologists. Information about the genes associated with ALS and understanding of particular pathogenetic mechanisms of the disease play a key role in the development of effective therapeutic strategies.