pattismith
Senior Member
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MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
2019
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.
2019
- Marianne Venter,
- Cara Tomas,
- Ilse S. Pienaar,
- Victoria Strassheim,
- Elardus Erasmus,
- Wan-Fai Ng,
- Neil Howell,
- Julia L. Newton,
- Francois H. Van der Westhuizen &
- Joanna L. Elson
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.
