The "Gene of deafness" in Yakutia

NEFU young scientists investigate the gene for deafness in patients with congenital hearing impairment

Olga Savvinova, Press service of the North-Eastern Federal University

The results of a scientific study of young scientists of the Northeastern Federal University to identify mutations in the GJB2 gene in patients with congenital hearing disorders in Yakutia have been published in the international scientific journal Plos One, according to the NEFU Institute of Natural Sciences.

"The publication of scientists' works in such a journal as Plos One makes it possible to reach the world level. We have the opportunity to show our research to a wide audience of scientists and researchers who may refer to the work of our colleagues in the future," said Nikolay Barashkov, senior researcher at the Research Laboratory of Molecular Biology of the Institute of Natural Sciences of the NEFU.

According to graduate student Vera Pshennikova, one of the authors of the work "Analysis of the spectrum and frequency of mutations in the GJB2 gene in patients with congenital hearing disorders in the Republic of Sakha (Yakutia)", work has been underway to identify the mutation since 2010. "In the Siberian region of Russia, there have not yet been major studies on the detection of deafness – our work is the first. The revealed contribution of mutations of the GJB2 gene to the etiology of deafness in patients with congenital hearing impairment in Yakutia was 49% and turned out to be the highest among the previously studied regions of Asia," says the young scientist.

The young researcher says that in the spectrum of gene mutations in the research sample of patients, three most frequent types of mutations were found: C.-23+11G>A, C.35delG and C.109G>A. "Among Yakuts, the most common mutation of the splicing site is C.-23+11G>A, among patients of Caucasian origin – C.35delG. In the future, during DNA diagnostics of patients with congenital hearing disorders, the detection of only these three mutations can reveal 99% of all mutant chromosomes in Yakutia," she explains.

In Yakutia, a mutation in the GJB2 gene was found mainly in the indigenous population, which in the homozygous state is the cause of congenital deafness and occurs with extremely high frequency in Yakuts (10.3%). The results of the research conducted by the staff of the NEFU Research Laboratory of Molecular Biology can be used in the practice of detecting, treating and preventing deafness as a result of a mutation of the GJB2 gene.

Portal "Eternal youth" http://vechnayamolodost.ru  07.06.2016