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ORIGINAL RESEARCH article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1511304

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin

Provisionally accepted
Dmitrii Subbotin Dmitrii Subbotin 1*Sofya Ionova Sofya Ionova 1Andrey Marakhonov Andrey Marakhonov 1Elena Saifullina Elena Saifullina 2Artem Borovikov Artem Borovikov 1Leila Akhmadeeva Leila Akhmadeeva 2Polina Chausova Polina Chausova 1Oksana Ryzhkova Oksana Ryzhkova 1Rena Zinchenko Rena Zinchenko 1Sergey Kutsev Sergey Kutsev 1Aysylu Murtazina Aysylu Murtazina 1
  • 1 Research Centre for Medical Genetics, Moscow, Russia
  • 2 Bashkir State Medical University, Ufa, Bashkortostan, Russia

The final, formatted version of the article will be published soon.

    GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. In this study, we investigate the allele frequency of the c.169_170delinsTT (p.(Ala57Phe)) variant in the GNE gene (NM_001128227.3) among the different ethnic populations (Mari, Tatar, and Bashkir). This variant was detected in the Mari population with an allele frequency of 0.003788 but was not found in the Tatar and Bashkir populations. Additionally, we conducted indepth interviews with patients and their families to investigate the origin of this variant. By comparing the information gathered with historical data on migration patterns in the Middle Volga region and estimating the age of the variant's dissemination, we propose hypotheses regarding its origin and the pathways through which it spread. In the current context of increased rate of interethnic marriages, investigating the spread of common pathogenic variants from historically isolated populations is important for molecular genetic diagnosis. This approach aids in optimizing diagnostic processes and reducing the diagnostic odyssey for patients.

    Keywords: GNE, Nonaka myopathy, Distal myopathy, Mari, Bashkir, frequent variant, Founder effect, Finno-ugric people

    Received: 14 Oct 2024; Accepted: 25 Nov 2024.

    Copyright: © 2024 Subbotin, Ionova, Marakhonov, Saifullina, Borovikov, Akhmadeeva, Chausova, Ryzhkova, Zinchenko, Kutsev and Murtazina. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Dmitrii Subbotin, Research Centre for Medical Genetics, Moscow, Russia

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.