MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants.
Sci Rep
; 9(1): 2914, 2019 02 27.
Article
em En
| MEDLINE
| ID: mdl-30814539
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
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Síndrome de Fadiga Crônica
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Grupos Populacionais
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Genótipo
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Mutação
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article