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Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Wei, Wei 
Gomez-Duran, Aurora  ORCID logo  https://orcid.org/0000-0002-5895-6860
Hudson, Gavin 
Chinnery, Patrick F  ORCID logo  https://orcid.org/0000-0002-7065-6617

Abstract

Inherited mitochondrial DNA (mtDNA) mutations have emerged as a common cause of human disease, with mutations occurring multiple times in the world population. The clinical presentation of three pathogenic mtDNA mutations is strongly associated with a background mtDNA haplogroup, but it is not clear whether this is limited to a handful of examples or is a more general phenomenon. To address this, we determined the characteristics of 30,506 mtDNA sequences sampled globally. After performing several quality control steps, we ascribed an established pathogenicity score to the major alleles for each sequence. The mean pathogenicity score for known disease-causing mutations was significantly different between mtDNA macro-haplogroups. Several mutations were observed across all haplogroup backgrounds, whereas others were only observed on specific clades. In some instances this reflected a founder effect, but in others, the mutation recurred but only within the same phylogenetic cluster. Sequence diversity estimates showed that disease-causing mutations were more frequent on young sequences, and genomes with two or more disease-causing mutations were more common than expected by chance. These findings implicate the mtDNA background more generally in recurrent mutation events that have been purified through natural selection in older populations. This provides an explanation for the low frequency of mtDNA disease reported in specific ethnic groups.

Description

Keywords

Alleles, Base Sequence, DNA, Mitochondrial, Databases, Genetic, Founder Effect, Gene Frequency, Genetic Variation, Haplotypes, Humans, Mitochondria, Mutation, Optic Atrophy, Hereditary, Leber, Phylogeny

Journal Title

PLoS Genet

Conference Name

Journal ISSN

1553-7390
1553-7404

Volume Title

13

Publisher

Public Library of Science (PLoS)
Sponsorship
Wellcome Trust (101876/Z/13/Z)