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Open Access 01-12-2022 | Letter to the Editor

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Authors: M. Pilar Bayona-Bafaluy, Ester López-Gallardo, Sonia Emperador, David Pacheu-Grau, Julio Montoya, Eduardo Ruiz-Pesini

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

Abstract

Population frequency has been one of the most widely used criteria to help assign pathogenicity to newly described mitochondrial DNA variants. However, after sequencing this molecule in thousands of healthy individuals, it has been observed that a very large number of genetic variants have a very low population frequency, which has raised doubts about the utility of this criterion. By analyzing the genetic variation of mitochondrial DNA-encoded genes for oxidative phosphorylation subunits in 195,983 individuals from HelixMTdb that were not sequenced based on any medical phenotype, we show that rare variants are deleterious and, along with other criteria, population frequency is still a useful criterion to assign pathogenicity to newly described variants.

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Title: Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?
Authors: M. Pilar Bayona-Bafaluy
Ester López-Gallardo
Sonia Emperador
David Pacheu-Grau
Julio Montoya
Eduardo Ruiz-Pesini
Publication date: 01-12-2022
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-022-02428-0

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Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Abstract

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