ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2022.80.24ymj-313Research ArticleАРКТИЧЕСКАЯ МЕДИЦИНАARCTIC MEDICINEЛокальный очаг накопления митохондриальной формы потери слуха в Эвено-Бытантайском районе ЯкутииA local focus of accumulation of the mitochondrial form of hearing loss in Even-Bytantaysky district of YakutiaПшенниковаВ. Г.PshennikovaV. G.

Пшенникова Вера Геннадиевна – к.б.н., в.н.с.

Pshennikova Vera Gennadievna – PhD in Biology, external researcher, head of the lab.

psennikovavera@mail.ruТерютинФ. М.TeryutinF. M.

Teryutin Fyodor Mikhailovich – PhD, external reseacher

rest26@mail.ruРомановГ. П.RomanovG. P.

Романов Георгий Прокопьевич – м.н.с.

Romanov Georgy Prokopievich – researcher

gpromanov@gmail.comСоловьевА. В.SolovyovA. V.

Соловьев Айсен Васильевич – к.б.н., н.с.

Solovyov Aisen Vasilyevich – PhD in Biology, researcher

nelloann@mail.ruБарашковН. А.BarashkovN. A.

Барашков Николай Алексеевич – к.б.н., в.н.с. – руковод. лаб.

Barashkov Nikolay Alekseevich – PhD in Biology, external researcher, head of the lab.

barashkov2004@mail.ruЯкутский научный центр комплексных медицинских проблемРоссияYakut Science Centre of Complex Medical ProblemsRussian Federation202207022025049195Copyright © Пшенникова В.Г., Терютин Ф.М., Романов Г.П., Соловьев А.В., Барашков Н.А., 20252025Пшенникова В.Г., Терютин Ф.М., Романов Г.П., Соловьев А.В., Барашков Н.А.Pshennikova V.G., Teryutin F.M., Romanov G.P., Solovyov A.V., Barashkov N.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/313

Проведено клинико-генеалогическое, клинико-аудиологическое и молекулярно-генетическое обследование жителей Эвено-Бытантайского района Якутии с целью исследования митохондриальной формы потери слуха в этом районе. Клинико-генеалогический анализ, проведенный глубиной до пятого поколения, выявил, что индивиды с  мутацией m.1555A>G относятся к трем семьям (включающим 25 пораженных глухотой человек), в которых потеря слуха сегрегировала по митохондриальному типу наследования. У обследованных индивидов с мутацией m.1555A>G гена MTRNR1 выявлена клиническая вариабельность фенотипа – от нормального слуха до двусторонней тугоухости III степени с поздним дебютом (начиная от 30 до 60 лет). Выявленная вариабельность, вероятно, обусловлена неполной пенетрантностью и требует дальнейших экстенсивных исследований, направленных на поиск генов-модуляторов ядерного или митохондриального геномов.

Previously, the m.1555A>G mutation in the MT-RNR1 gene associated with the mitochondrial form of hearing loss was detected in one patient from Eveno-Bytantaisky district of Yakutia. The aim of this work is to study the mitochondrial form of hearing loss in this region of Yakutia, which probably has a local focus of accumulation of the m.1555A>G mutation in the MT-RNR1 gene. In the work, a clinical-genealogical, clinical-audiological and molecular-genetic examination of 72 residents of Eveno-Bytantaisky district was carried out for the presence of the m.1555A>G mutation in the MT-RNR1 gene of mitochondrial DNA. As a result of molecular genetic analysis, among the examined individuals, the m.1555A>G mutation was found in 6 people. Clinical and genealogical analysis, carried out up to the fifth generation, revealed that these six individuals belong to three families (including 25 deaf people). In the examined individuals with the m.1555A>G mutation of the MT-RNR1 gene, clinical phenotype variability was revealed - from normal hearing to bilateral hearing loss of III degree, with a late debut (onset from 30 to 60 years). The revealed variability is probably due to incomplete penetrance and requires further extensive research aimed at searching for genes that modulate nuclear or mitochondrial genomes.

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The authors declare that there are no conflicts of interest present.