High Prevalence of M.1555A > G in Patients with Hearing Loss in the Baikal Lake Region of Russia As a Result of Founder Effect

Overview

Journal Sci Rep

Specialty Science

Date 2024 Jul 3

PMID 38961196

Authors

Tuyara V Borisova

Aleksandra M Cherdonova

Vera G Pshennikova

Fedor M Teryutin

Igor V Morozov

Alexander A Bondar

Olga A Baturina

Marsel R Kabilov

Georgii P Romanov

Aisen V Solovyev

Sardana A Fedorova

Nikolay A Barashkov

Affiliations

Soon will be listed here.

Abstract

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.

References

Derenko M, Denisova G, Malyarchuk B, Dambueva I, Bazarov B . Mitogenomic diversity and differentiation of the Buryats. J Hum Genet. 2017; 63(1):71-81. DOI: 10.1038/s10038-017-0370-2. View

Cann R, Stoneking M, Wilson A . Mitochondrial DNA and human evolution. Nature. 1987; 325(6099):31-6. DOI: 10.1038/325031a0. View

Hobbie S, Bruell C, Akshay S, Kalapala S, Shcherbakov D, Bottger E . Mitochondrial deafness alleles confer misreading of the genetic code. Proc Natl Acad Sci U S A. 2008; 105(9):3244-9. PMC: 2265171. DOI: 10.1073/pnas.0707265105. View

Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S, Madden T . Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction. BMC Bioinformatics. 2012; 13:134. PMC: 3412702. DOI: 10.1186/1471-2105-13-134. View

Prezant T, Agapian J, Bohlman M, Bu X, Oztas S, Qiu W . Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet. 1993; 4(3):289-94. DOI: 10.1038/ng0793-289. View

Bae J, Kim D, Choi J, Park H, Lee J, Hur D . Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation. PLoS One. 2012; 7(8):e42463. PMC: 3412860. DOI: 10.1371/journal.pone.0042463. View

Yamamoto K, Sakaue S, Matsuda K, Murakami Y, Kamatani Y, Ozono K . Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population. Commun Biol. 2020; 3(1):104. PMC: 7058612. DOI: 10.1038/s42003-020-0812-9. View

Del Castillo I, Morin M, Dominguez-Ruiz M, Moreno-Pelayo M . Genetic etiology of non-syndromic hearing loss in Europe. Hum Genet. 2022; 141(3-4):683-696. DOI: 10.1007/s00439-021-02425-6. View

Gallo-Teran J, Arellano B, Morales-Angulo C, Modamio-Hoybjor S, Moreno-Pelayo M, Ramirez-Camacho R . [Prevalence of the A1555G mutation in the mitochondrial DNA in patients with cochlear or vestibular damage due to aminoglycoside-induced ototoxicity]. Acta Otorrinolaringol Esp. 2004; 55(5):212-7. DOI: 10.1016/s0001-6519(04)78511-8. View

10.

Pakendorf B, Novgorodov I, Osakovskij V, Stoneking M . Mating patterns amongst Siberian reindeer herders: inferences from mtDNA and Y-chromosomal analyses. Am J Phys Anthropol. 2007; 133(3):1013-27. DOI: 10.1002/ajpa.20590. View

11.

Starikovskaya E, Sukernik R, Derbeneva O, Volodko N, Ruiz-Pesini E, Torroni A . Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups. Ann Hum Genet. 2005; 69(Pt 1):67-89. PMC: 3905771. DOI: 10.1046/j.1529-8817.2003.00127.x. View

12.

Volodko N, Starikovskaya E, Mazunin I, Eltsov N, Naidenko P, Wallace D . Mitochondrial genome diversity in arctic Siberians, with particular reference to the evolutionary history of Beringia and Pleistocenic peopling of the Americas. Am J Hum Genet. 2008; 82(5):1084-100. PMC: 2427195. DOI: 10.1016/j.ajhg.2008.03.019. View

13.

Derenko M, Denisova G, Dambueva I, Malyarchuk B, Bazarov B . Mitogenomics of modern Mongolic-speaking populations. Mol Genet Genomics. 2021; 297(1):47-62. DOI: 10.1007/s00438-021-01830-w. View

14.

Schurr T, Ballinger S, Gan Y, Hodge J, Merriwether D, Lawrence D . Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. Am J Hum Genet. 1990; 46(3):613-23. PMC: 1683611. View

15.

Ding Y, Teng Y, Guo Q, Leng J . Mitochondrial tRNAGln 4394C>T Mutation May Contribute to the Clinical Expression of 1555A>G-Induced Deafness. Genes (Basel). 2022; 13(10). PMC: 9602358. DOI: 10.3390/genes13101794. View

16.

Abe S, Usami S, Shinkawa H, Weston M, Overbeck L, Hoover D . Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. Eur J Hum Genet. 1999; 6(6):563-9. DOI: 10.1038/sj.ejhg.5200239. View

17.

Hutchin T, Cortopassi G . Multiple origins of a mitochondrial mutation conferring deafness. Genetics. 1997; 145(3):771-6. PMC: 1207861. DOI: 10.1093/genetics/145.3.771. View

18.

Angulo C, Gallo-Teran J, Senaris B, Fontalva A, Gonzalez-Aguado R, Fernandez-Luna J . [Prevalence of the A1555G MTDNA mutation in sporadic hearing-impaired patients without known history of aminoglycoside treatment]. Acta Otorrinolaringol Esp. 2010; 62(2):83-6. DOI: 10.1016/j.otorri.2010.08.003. View

19.

Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L . Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet. 1998; 62(1):27-35. PMC: 1376822. DOI: 10.1086/301676. View

20.

Usami S, Abe S, Akita J, Namba A, Shinkawa H, Ishii M . Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet. 2000; 37(1):38-40. PMC: 1734443. DOI: 10.1136/jmg.37.1.38. View