MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
27 02 2019
27 02 2019
Historique:
received:
02
11
2018
accepted:
11
01
2019
entrez:
1
3
2019
pubmed:
1
3
2019
medline:
24
10
2020
Statut:
epublish
Résumé
Myalgic Encephalomyelitis (ME), also known as Chronic Fatigue Syndrome (CFS) is a debilitating condition. There is growing interest in a possible etiologic or pathogenic role of mitochondrial dysfunction and mitochondrial DNA (mtDNA) variation in ME/CFS. Supporting such a link, fatigue is common and often severe in patients with mitochondrial disease. We investigate the role of mtDNA variation in ME/CFS. No proven pathogenic mtDNA mutations were found. We then investigated population variation. Two cohorts were analysed, one from the UK (n = 89 moderately affected; 29 severely affected) and the other from South Africa (n = 143 moderately affected). For both cohorts, ME/CFS patients had an excess of individuals without a mildly deleterious population variant. The differences in population variation might reflect a mechanism important to the pathophysiology of ME/CFS.
Identifiants
pubmed: 30814539
doi: 10.1038/s41598-019-39060-1
pii: 10.1038/s41598-019-39060-1
pmc: PMC6393470
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2914Subventions
Organisme : Medical Research Council
ID : MR/J002720/1
Pays : United Kingdom
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