MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
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...
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| Veröffentlicht in: | Scientific reports 2019-02, Vol.9 (1), p.2914, Article 2914 |
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| creator | 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. |
| description | 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. |
| doi_str_mv | 10.1038/s41598-019-39060-1 |
| format | Article |
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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.</description><identifier>ISSN: 2045-2322</identifier><identifier>EISSN: 2045-2322</identifier><identifier>DOI: 10.1038/s41598-019-39060-1</identifier><identifier>PMID: 30814539</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/208/205 ; 631/208/457/649/2219 ; Chronic fatigue syndrome ; Cimicifuga ; Disease Progression ; DNA, Mitochondrial - genetics ; Encephalomyelitis ; Fatigue ; Fatigue Syndrome, Chronic - epidemiology ; Fatigue Syndrome, Chronic - genetics ; Gene Frequency ; Gene Regulatory Networks ; Genotype ; Haplotypes ; Humanities and Social Sciences ; Humans ; Mitochondrial DNA ; multidisciplinary ; Mutation - genetics ; Phenotype ; Polymorphism, Genetic ; Population ; Population Groups ; Population studies ; Science ; Science (multidisciplinary) ; South Africa - epidemiology ; United Kingdom - epidemiology ; Variation</subject><ispartof>Scientific reports, 2019-02, Vol.9 (1), p.2914, Article 2914</ispartof><rights>The Author(s) 2019</rights><rights>This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c522t-1fe24d6477b0fac1eae91e0efdc0c731eb6b8c5c35b95618df62be2174ab8baa3</citedby><cites>FETCH-LOGICAL-c522t-1fe24d6477b0fac1eae91e0efdc0c731eb6b8c5c35b95618df62be2174ab8baa3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393470/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393470/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,27901,27902,41096,42165,51551,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30814539$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Venter, Marianne</creatorcontrib><creatorcontrib>Tomas, Cara</creatorcontrib><creatorcontrib>Pienaar, Ilse S.</creatorcontrib><creatorcontrib>Strassheim, Victoria</creatorcontrib><creatorcontrib>Erasmus, Elardus</creatorcontrib><creatorcontrib>Ng, Wan-Fai</creatorcontrib><creatorcontrib>Howell, Neil</creatorcontrib><creatorcontrib>Newton, Julia L.</creatorcontrib><creatorcontrib>Van der Westhuizen, Francois H.</creatorcontrib><creatorcontrib>Elson, Joanna L.</creatorcontrib><title>MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants</title><title>Scientific reports</title><addtitle>Sci Rep</addtitle><addtitle>Sci Rep</addtitle><description>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.</description><subject>631/208/205</subject><subject>631/208/457/649/2219</subject><subject>Chronic fatigue syndrome</subject><subject>Cimicifuga</subject><subject>Disease Progression</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Encephalomyelitis</subject><subject>Fatigue</subject><subject>Fatigue Syndrome, Chronic - epidemiology</subject><subject>Fatigue Syndrome, Chronic - genetics</subject><subject>Gene Frequency</subject><subject>Gene Regulatory Networks</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humanities and Social Sciences</subject><subject>Humans</subject><subject>Mitochondrial DNA</subject><subject>multidisciplinary</subject><subject>Mutation - genetics</subject><subject>Phenotype</subject><subject>Polymorphism, Genetic</subject><subject>Population</subject><subject>Population Groups</subject><subject>Population studies</subject><subject>Science</subject><subject>Science (multidisciplinary)</subject><subject>South Africa - 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genetics</topic><topic>Encephalomyelitis</topic><topic>Fatigue</topic><topic>Fatigue Syndrome, Chronic - epidemiology</topic><topic>Fatigue Syndrome, Chronic - genetics</topic><topic>Gene Frequency</topic><topic>Gene Regulatory Networks</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Humanities and Social Sciences</topic><topic>Humans</topic><topic>Mitochondrial DNA</topic><topic>multidisciplinary</topic><topic>Mutation - genetics</topic><topic>Phenotype</topic><topic>Polymorphism, Genetic</topic><topic>Population</topic><topic>Population Groups</topic><topic>Population studies</topic><topic>Science</topic><topic>Science (multidisciplinary)</topic><topic>South Africa - epidemiology</topic><topic>United Kingdom - epidemiology</topic><topic>Variation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Venter, Marianne</creatorcontrib><creatorcontrib>Tomas, Cara</creatorcontrib><creatorcontrib>Pienaar, Ilse S.</creatorcontrib><creatorcontrib>Strassheim, Victoria</creatorcontrib><creatorcontrib>Erasmus, Elardus</creatorcontrib><creatorcontrib>Ng, Wan-Fai</creatorcontrib><creatorcontrib>Howell, Neil</creatorcontrib><creatorcontrib>Newton, Julia L.</creatorcontrib><creatorcontrib>Van der Westhuizen, Francois H.</creatorcontrib><creatorcontrib>Elson, Joanna L.</creatorcontrib><collection>Springer Nature OA/Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Scientific reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Venter, Marianne</au><au>Tomas, Cara</au><au>Pienaar, Ilse S.</au><au>Strassheim, Victoria</au><au>Erasmus, Elardus</au><au>Ng, Wan-Fai</au><au>Howell, Neil</au><au>Newton, Julia L.</au><au>Van der Westhuizen, Francois H.</au><au>Elson, Joanna L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants</atitle><jtitle>Scientific reports</jtitle><stitle>Sci Rep</stitle><addtitle>Sci Rep</addtitle><date>2019-02-27</date><risdate>2019</risdate><volume>9</volume><issue>1</issue><spage>2914</spage><pages>2914-</pages><artnum>2914</artnum><issn>2045-2322</issn><eissn>2045-2322</eissn><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.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>30814539</pmid><doi>10.1038/s41598-019-39060-1</doi><oa>free_for_read</oa></addata></record> |
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| subjects | 631/208/205 631/208/457/649/2219 Chronic fatigue syndrome Cimicifuga Disease Progression DNA, Mitochondrial - genetics Encephalomyelitis Fatigue Fatigue Syndrome, Chronic - epidemiology Fatigue Syndrome, Chronic - genetics Gene Frequency Gene Regulatory Networks Genotype Haplotypes Humanities and Social Sciences Humans Mitochondrial DNA multidisciplinary Mutation - genetics Phenotype Polymorphism, Genetic Population Population Groups Population studies Science Science (multidisciplinary) South Africa - epidemiology United Kingdom - epidemiology Variation |
| title | MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants |
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