Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
Analysis of the Spectrum of the mtDNA Haplogroups in Patients with Hearing Loss Carrying the Likely Pathogenic Ultra-Rare m.1494C>T Variant in the MT-RNR1 Gene. / Borisova, T. V.; Cherdonova, A. M.; Pshennikova, V. G. и др.
в: Russian Journal of Genetics, Том 61, № 8, 9, 08.2025, стр. 974-986.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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TY - JOUR
T1 - Analysis of the Spectrum of the mtDNA Haplogroups in Patients with Hearing Loss Carrying the Likely Pathogenic Ultra-Rare m.1494C>T Variant in the MT-RNR1 Gene
AU - Borisova, T. V.
AU - Cherdonova, A. M.
AU - Pshennikova, V. G.
AU - Teryutin, F. M.
AU - Morozov, I. V.
AU - Bondar, A. A.
AU - Baturina, O. A.
AU - Kabilov, M. R.
AU - Romanov, G. P.
AU - Solovyev, A. V.
AU - Fedorova, S. A.
AU - Barashkov, N. A.
N1 - This study was performed within the framework of the topic of research at the Yakut Scientific Center of Complex Medical Problems “The Study of Genetic Structure and Genetic Load of Hereditary Diseases in Populations of the Republic of Sakha (Yakutia)” and was supported by the State Contract of the Ministry of Science and Higher Education of the Russian Federation (FSRG-2023-0003 and 125012300656-5).
PY - 2025/8
Y1 - 2025/8
N2 - The contribution of the m.1494C>T variant of the MT-RNR1 gene associated with aminoglycoside-induced deafness (MT-RNR1, OMIM 561000) to the etiology of hearing loss (HL) is still poorly studied. In this regard, the aim of the study is screening of the m.1494C>T in the MT-RNR1 gene among patients with HL in the Republic of Buryatia followed by reconstruction of mitochondrial lineages with the m.1494C>T variant from different regions of the world. From available databases and the results of a genome-wide analysis of mtDNA of one patient with m.1494C>T detected in this study, we have reconstructed the mitochondrial lineages in 27 patients from different regions of the world in which the ultra-rare variant was obtained. As a result, 19 different mtDNA haplogroups were identified in patients, which likely indicates the independent origin of the m.1494C>T variant. However, in patients with m.1494C>T, a high frequency of haplogroup A* (18.5%, 5/27) was obtained, which was 13-fold higher (χ2 = 45.274; p < 0.001) than mean worldwide frequency of this haplogroup (1.45%, 519/35 748). The overrepresentation of haplogroup A* among patients with m.1494C>T may be due to their common ancestry. The possible influence of a founder effect on the prevalence of the MT-RNR1 increases the relevance of target screening for the m.1494C>T variant in previously unexplored cohorts of patients with HL, primarily, in regions where the haplogroups A* and its daughter branch A2 were found, i.e., in Asia and America.
AB - The contribution of the m.1494C>T variant of the MT-RNR1 gene associated with aminoglycoside-induced deafness (MT-RNR1, OMIM 561000) to the etiology of hearing loss (HL) is still poorly studied. In this regard, the aim of the study is screening of the m.1494C>T in the MT-RNR1 gene among patients with HL in the Republic of Buryatia followed by reconstruction of mitochondrial lineages with the m.1494C>T variant from different regions of the world. From available databases and the results of a genome-wide analysis of mtDNA of one patient with m.1494C>T detected in this study, we have reconstructed the mitochondrial lineages in 27 patients from different regions of the world in which the ultra-rare variant was obtained. As a result, 19 different mtDNA haplogroups were identified in patients, which likely indicates the independent origin of the m.1494C>T variant. However, in patients with m.1494C>T, a high frequency of haplogroup A* (18.5%, 5/27) was obtained, which was 13-fold higher (χ2 = 45.274; p < 0.001) than mean worldwide frequency of this haplogroup (1.45%, 519/35 748). The overrepresentation of haplogroup A* among patients with m.1494C>T may be due to their common ancestry. The possible influence of a founder effect on the prevalence of the MT-RNR1 increases the relevance of target screening for the m.1494C>T variant in previously unexplored cohorts of patients with HL, primarily, in regions where the haplogroups A* and its daughter branch A2 were found, i.e., in Asia and America.
KW - Baikal Lake region
KW - MT-RNR1 gene
KW - aminoglycoside-induced deafness
KW - haplogroup A
KW - m.1494C>T
KW - mtDNA
UR - https://www.scopus.com/pages/publications/105014736078
UR - https://www.mendeley.com/catalogue/ba418e50-d073-35e5-89bb-9966905eff26/
U2 - 10.1134/S1022795425700504
DO - 10.1134/S1022795425700504
M3 - Article
VL - 61
SP - 974
EP - 986
JO - Russian Journal of Genetics
JF - Russian Journal of Genetics
SN - 1022-7954
IS - 8
M1 - 9
ER -
ID: 68992293