MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
| Autor: | Victoria Strassheim, Joanna L. Elson, Cara Tomas, Marianne Venter, Julia L. Newton, Neil Howell, Ilse S. Pienaar, Elardus Erasmus, Francois H. van der Westhuizen, Wan-Fai Ng |
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| Přispěvatelé: | 20196946 - Venter, Marianne, 10213503 - Van der Westhuizen, Francois Hendrikus, 24952338 - Elson, Joanna L., 10066136 - Erasmus, Elardus |
| Rok vydání: | 2019 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine Cimicifuga Mitochondrial DNA Genotype Mitochondrial disease Encephalomyelitis Population lcsh:Medicine DNA Mitochondrial Article South Africa 03 medical and health sciences 0302 clinical medicine Gene Frequency Population Groups Chronic fatigue syndrome medicine Humans Gene Regulatory Networks lcsh:Science education Allele frequency Genetic association study education.field_of_study Fatigue Syndrome Chronic Polymorphism Genetic Multidisciplinary business.industry lcsh:R Haplotype virus diseases Rare variants medicine.disease United Kingdom Phenotype 030104 developmental biology Haplotypes Mutation Immunology Disease Progression lcsh:Q business 030217 neurology & neurosurgery |
| Zdroj: | Scientific Reports Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019) |
| ISSN: | 2045-2322 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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