The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative
Our findings suggest that the c.678G>C; p.(Gln226His) variant, in conjunction with the c.2419C>T; p.(Arg807Cys) mutation, may compromise mtDNA replication and mitochondrial function and could result in clinically significant mitochondriopathy. As this study is based on one patient compared to a first-degree relative (but with an identical mitochondrial genome), the pathogenicity of c.678G>C; p.(Gln226His) of <i>POLG</i> should be confirmed in future studies, in particular, in conjunction with other <i>POLG</i>-variants.
Authors
- Mert Karakaya
- Felix Langerscheidt (ORCID: https://orcid.org/0009-0007-5379-9089)
- Imra Mantey
- Hans Zempel (ORCID: https://orcid.org/0000-0002-7510-3077)
- Naomi Baba (ORCID: https://orcid.org/0000-0003-3722-5353)
- Katharina Burghardt
- Çağla Çakmak Durmaz
Institutions
- University of Cologne (DE)
- Jena University Hospital (DE)
- University Hospital Magdeburg (DE)
- University Hospital Cologne (DE)
- Friedrich Schiller University Jena (DE)
Publication Details
- Journal
- Genes
- Published
- 2025-02-05
- DOI
- https://doi.org/10.3390/genes16020198
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Jürgen Manchot Stiftung