TY - JOUR

T1 - High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect

AU - Borisova, Tuyara V

AU - Cherdonova, Aleksandra M

AU - Pshennikova, Vera G

AU - Teryutin, Fedor M

AU - Morozov, Igor V

AU - Bondar, Alexander A

AU - Baturina, Olga A

AU - Kabilov, Marsel R

AU - Romanov, Georgii P

AU - Solovyev, Aisen V

AU - Fedorova, Sardana A

AU - Barashkov, Nikolay A

N1 - Tis study was supported by the Ministry of Science and Higher Education of the Russian Federation (FSRG2023-0003) (T.V.B., A.M.C., A.V.S., G.P.R. and S.A.F.) and YSC CMP project “Study of the genetic structure and burden of hereditary pathology of the populations of the Republic of Sakha (Yakutia)” (to V.G.P., F.M.T. and N.A.B.). © 2024. The Author(s).

PY - 2024/12

Y1 - 2024/12

N2 - Mitochondrial forms account approximately 1-2% of all nonsyndromic cases of hearing loss (HL). One of the most common causative variants of mtDNA is the m.1555A > G variant of the MT-RNR1 gene (OMIM 561000). Currently the detection of the m.1555A > G variant of the MT-RNR1 gene is not included in all research protocols. In this study this variant was screened among 165 patients with HL from the Republic of Buryatia, located in the Baikal Lake region of Russia. In our study, the total contribution of the m.1555A > G variant to the etiology of HL was 12.7% (21/165), while the update global prevalence of this variant is 1.8% (863/47,328). The m.1555A > G variant was notably more prevalent in Buryat (20.2%) than in Russian patients (1.3%). Mitogenome analysis in 14 unrelated Buryat families carrying the m.1555A > G variant revealed a predominant lineage: in 13 families, a cluster affiliated with sub-haplogroup A5b (92.9%) was identified, while one family had the D5a2a1 lineage (7.1%). In a Russian family with the m.1555A > G variant the lineage affiliated with sub-haplogroup F1a1d was found. Considering that more than 90% of Buryat families with the m.1555A > G variant belong to the single maternal lineage cluster we conclude that high prevalence of this variant in patients with HL in the Baikal Lake region can be attributed to a founder effect.

AB - Mitochondrial forms account approximately 1-2% of all nonsyndromic cases of hearing loss (HL). One of the most common causative variants of mtDNA is the m.1555A > G variant of the MT-RNR1 gene (OMIM 561000). Currently the detection of the m.1555A > G variant of the MT-RNR1 gene is not included in all research protocols. In this study this variant was screened among 165 patients with HL from the Republic of Buryatia, located in the Baikal Lake region of Russia. In our study, the total contribution of the m.1555A > G variant to the etiology of HL was 12.7% (21/165), while the update global prevalence of this variant is 1.8% (863/47,328). The m.1555A > G variant was notably more prevalent in Buryat (20.2%) than in Russian patients (1.3%). Mitogenome analysis in 14 unrelated Buryat families carrying the m.1555A > G variant revealed a predominant lineage: in 13 families, a cluster affiliated with sub-haplogroup A5b (92.9%) was identified, while one family had the D5a2a1 lineage (7.1%). In a Russian family with the m.1555A > G variant the lineage affiliated with sub-haplogroup F1a1d was found. Considering that more than 90% of Buryat families with the m.1555A > G variant belong to the single maternal lineage cluster we conclude that high prevalence of this variant in patients with HL in the Baikal Lake region can be attributed to a founder effect.

KW - Humans

KW - Russia/epidemiology

KW - Female

KW - Male

KW - Hearing Loss/genetics

KW - Founder Effect

KW - Prevalence

KW - DNA, Mitochondrial/genetics

KW - Adult

KW - Child

KW - Adolescent

KW - Haplotypes

KW - Child, Preschool

KW - Middle Aged

KW - Lakes

KW - Young Adult

UR - https://www.scopus.com/record/display.uri?eid=2-s2.0-85197857951&origin=inward&txGid=2eee37106b7bc663cb2c6547240f1d4b

U2 - 10.1038/s41598-024-66254-z

DO - 10.1038/s41598-024-66254-z

M3 - Article

C2 - 38961196

VL - 14

JO - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

IS - 1

M1 - 15342

ER -