Mitochondrial DNA

From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history

Mitochondrial DNA (aka mtDNA or mDNA) is DNA located within the mitochondria. Mitochondrial DNA is different from the DNA found in the cell nucleus in that it is most often inherited from the mother, whereas the DNA in the cell nucleus is inherited equally from both parents. Seventeen people in three unrelated families have been identified as having mitochondrial DNA from both their parents.[1] A 1996 study suggested that this could happen due to the midpiece mitochondrial sheath of sperm enters the egg at fertilization.[2]

Mitochondrial DNA in relation to ME/CFS[edit | edit source]

In 2016, a study by Billing-Ross, et al, showed that ME/CFS subjects exhibited no known disease-causing mtDNA mutations. Likewise, there was no increase in susceptibility to ME/CFS of individuals carrying particular mitochondrial genetic material or single nucleotide polymorphisms (SNPs). However, analysis of the mitochondrial genomes in ME/CFS cases indicated that individuals of several genetic population groups (haplogroups J, U and H) or carrying eight specific single nucleotide polymorphisms (SNPs) are more likely to exhibit similar types and severity of symptoms, namely neurological, inflammatory, and/or gastrointestinal symptoms.[3]

Research studies[edit | edit source]

See also[edit | edit source]

Learn more[edit | edit source]

References[edit | edit source]

  1. 1.0 1.1 Wu, Katherine J (November 26, 2018). "Not Your Mom's Genes: Mitochondrial DNA Can Come from Dad". pbs.org. NOVA. Retrieved November 29, 2018.
  2. 2.0 2.1 Ankel-Simons, Friderun; Cummins, Jim M. (November 26, 1996). "Misconceptions about mitochondria and mammalian fertilization: Implications for theories on human evolution". Proceedings of the National Academy of Sciences of the United States of America. 93 (24): 13859–13863. ISSN 0027-8424. PMID 8943026.
  3. 3.0 3.1 Billing-Ross, Paul; Germain, Arnaud; Ye, Kaixiong; Keinan, Alon; Gu, Zhenglong; Hanson, Maureen R. (2016), "Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome", Journal of Translational Medicine, 14 (19), doi:10.1186/s12967-016-0771-6, PMID 26791940
  4. Behan, Wilhelmina M.H.; Holt, Ian J.; Kay, David H.; Moonie, Pamela (1999). "In vitro Study of Muscle Aerobic Metabolism in Chronic Fatigue Syndrome". Journal of Chronic Fatigue Syndrome. 5 (1): 3–16. doi:10.1300/J092v05n01_02.
  5. Hanson, Maureen R.; Gu, Zhenglong; Keinan, Alon; Ye, Kaixiong; Germain, Arnaud; Billing-Ross, Paul (December 20, 2016). "Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms". Journal of Translational Medicine. 14 (1): 342. doi:10.1186/s12967-016-1104-5. ISSN 1479-5876. PMC 5175376. PMID 27998272.
  6. 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. "MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants". Scientific Reports. ISSN 2045-2322.
  7. Inacio, Patricia (February 10, 2016). "Mitochondrial DNA Variations May Spur Symptoms in People with Form of Chronic Fatigue - Mitochondrial Disease News". Mitochondrial Disease News. Retrieved November 29, 2018.
  8. Van Dyk, HC (May 2016). "Evaluating the involvement of mtDNA variants in patients diagnosed with myalgic encephalomyelitis" (PDF). dspace.nwu.ac.za.