Genetic studies of Russian patients with amyotrophic lateral sclerosisстатья
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Дата последнего поиска статьи во внешних источниках: 2 сентября 2016 г.
Аннотация:Our objective was to search for mutations in genes SOD1, TARDBP, C9orf72, ANG, ATXN2 and VEGF in Russian patients
with amyotrophic lateral sclerosis (ALS). A group of 208 Russian patients with ALS was examined. Molecular genetic
analysis was conducted using direct sequencing, fragment analysis, and real-time PCR. We found eight different point
mutations in the SOD1 gene, with the frequency of mutations being 50% in familial ALS and 3% in sporadic ALS. No
mutations were found in exon 6 of the TARDBP gene; however, deletion c.715-126delG in intron 5 of TARDBP was overrepresented
in ALS patients compared to controls (38% vs. 26.6%; 2¼13.17; p¼0.002). Hexanucleotide repeat
expansion of the C9orf72 gene was revealed in 2.5% of sporadic ALS patients. Mutations in the ANG gene were identified
in 1.5% of sporadic ALS patients. The presence of an intermediate number (28–33) of GAC repeats in the ATXN2 gene
was observed significantly more often in the study group compared to the control group (5% vs. 1.7%; 2¼3.89;
p¼0.0486). In the cohort examined, we found an association between the disease and the risk A-allele and the A/A
genotype at the 2578Q/A locus of the VEGF gene. In conclusion, we determined for the first time the genetic basis of ALS
in a Russian population.