Academic Journal
MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
| العنوان: | MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants |
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| المؤلفون: | Venter, Marianne, Tomas, Cara, Pienaar, Ilse S, Strassheim, Victoria, Erasmus, Elardus, Ng, Wan-Fai, Howell, Neil, Newton, Julia L, van der Westhuizen, Francois H, Elson, Joanna L |
| بيانات النشر: | Nature Research |
| سنة النشر: | 2019 |
| المجموعة: | University of Sussex: Sussex Research Online |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | http://sro.sussex.ac.uk/id/eprint/81281/5/s41598-019-39060-1.pdf; http://sro.sussex.ac.uk/id/eprint/81281/3/SR_Manuscript_ME_deleterious_mtDNA_population_variants_with_Nos_MP_new_ref.pdf; Venter, Marianne, Tomas, Cara, Pienaar, Ilse S, Strassheim, Victoria, Erasmus, Elardus, Ng, Wan-Fai, Howell, Neil, Newton, Julia L, van der Westhuizen, Francois H and Elson, Joanna L (2019) MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants. Scientific Reports, 9 (2914). pp. 1-8. ISSN 2045-2322 |
| DOI: | 10.1038/s41598-019-39060-1 |
| الاتاحة: | http://sro.sussex.ac.uk/id/eprint/81281/ http://sro.sussex.ac.uk/id/eprint/81281/5/s41598-019-39060-1.pdf http://sro.sussex.ac.uk/id/eprint/81281/3/SR_Manuscript_ME_deleterious_mtDNA_population_variants_with_Nos_MP_new_ref.pdf https://doi.org/10.1038/s41598-019-39060-1 |
| Rights: | cc_by_4 |
| رقم الانضمام: | edsbas.B8549324 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41598-019-39060-1 |
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