Mitochondrial DNA

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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. 1.01.1 Wu, Katherine J (Nov 26, 2018). "Not Your Mom's Genes: Mitochondrial DNA Can Come from Dad". www.pbs.org. NOVA. Retrieved Nov 29, 2018. 
  2. 2.02.1 Ankel-Simons, Friderun; Cummins, Jim M. (Nov 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. 3.03.1 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 (Dec 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 5175376Freely accessible. 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 (Feb 10, 2016). "Mitochondrial DNA Variations May Spur Symptoms in People with Form of Chronic Fatigue - Mitochondrial Disease News". Mitochondrial Disease News. Retrieved Nov 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. 

mitochondria - Important parts of the biological cell, with each mitochondrion encased within a mitochondrial membrane. Mitochondria are best known for their role in energy production, earning them the nickname "the powerhouse of the cell". Mitochondria also participate in the detection of threats and the response to these threats. One of the responses to threats orchestrated by mitochondria is apoptosis, a cell suicide program used by cells when the threat can not be eliminated.

mitochondria - Important parts of the biological cell, with each mitochondrion encased within a mitochondrial membrane. Mitochondria are best known for their role in energy production, earning them the nickname "the powerhouse of the cell". Mitochondria also participate in the detection of threats and the response to these threats. One of the responses to threats orchestrated by mitochondria is apoptosis, a cell suicide program used by cells when the threat can not be eliminated.

ME/CFS - An acronym that combines myalgic encephalomyelitis with chronic fatigue syndrome. Sometimes they are combined because people have trouble distinguishing one from the other. Sometimes they are combined because people see them as synonyms of each other.

genome - an organism’s complete set of DNA, including all of its genes

single nucleotide polymorphism (SNP) - A single nucleotide polymorphism (SNP, pronounced "snip") is a potential genetic mutation that occurs in a single spot in the human genome; a difference in a single DNA building block. SNPs are often represented by an "rs" number, such as "rs53576".

chronic fatigue syndrome (CFS) - A controversial term, invented by the U.S. Centers for Disease Control, that generally refers to a collection of symptoms as “fatigue”. There have been multiple attempts to come up with a set of diagnostic criteria to define this term, but few of those diagnostic criteria are currently in use. Previous attempts to define this term include the Fukuda criteria and the Oxford criteria. Some view the term as a useful diagnostic category for people with long-term fatigue of unexplained origin. Others view the term as a derogatory term borne out of animus towards patients. Some view the term as a synonym of myalgic encephalomyelitis, while others view myalgic encephalomyelitis as a distinct disease.

myalgic encephalomyelitis (ME) - A disease often marked by neurological symptoms, but fatigue is sometimes a symptom as well. Some diagnostic criteria distinguish it from chronic fatigue syndrome, while other diagnostic criteria consider it to be a synonym for chronic fatigue syndrome. A defining characteristic of ME is post-exertional malaise (PEM), or post-exertional neuroimmune exhaustion (PENE), which is a notable exacerbation of symptoms brought on by small exertions. PEM can last for days or weeks. Symptoms can include cognitive impairments, muscle pain (myalgia), trouble remaining upright (orthostatic intolerance), sleep abnormalities, and gastro-intestinal impairments, among others. An estimated 25% of those suffering from ME are housebound or bedbound. The World Health Organization (WHO) classifies ME as a neurological disease.

mitochondria - Important parts of the biological cell, with each mitochondrion encased within a mitochondrial membrane. Mitochondria are best known for their role in energy production, earning them the nickname "the powerhouse of the cell". Mitochondria also participate in the detection of threats and the response to these threats. One of the responses to threats orchestrated by mitochondria is apoptosis, a cell suicide program used by cells when the threat can not be eliminated.

myalgic encephalomyelitis (ME) - A disease often marked by neurological symptoms, but fatigue is sometimes a symptom as well. Some diagnostic criteria distinguish it from chronic fatigue syndrome, while other diagnostic criteria consider it to be a synonym for chronic fatigue syndrome. A defining characteristic of ME is post-exertional malaise (PEM), or post-exertional neuroimmune exhaustion (PENE), which is a notable exacerbation of symptoms brought on by small exertions. PEM can last for days or weeks. Symptoms can include cognitive impairments, muscle pain (myalgia), trouble remaining upright (orthostatic intolerance), sleep abnormalities, and gastro-intestinal impairments, among others. An estimated 25% of those suffering from ME are housebound or bedbound. The World Health Organization (WHO) classifies ME as a neurological disease.

chronic fatigue syndrome (CFS) - A controversial term, invented by the U.S. Centers for Disease Control, that generally refers to a collection of symptoms as “fatigue”. There have been multiple attempts to come up with a set of diagnostic criteria to define this term, but few of those diagnostic criteria are currently in use. Previous attempts to define this term include the Fukuda criteria and the Oxford criteria. Some view the term as a useful diagnostic category for people with long-term fatigue of unexplained origin. Others view the term as a derogatory term borne out of animus towards patients. Some view the term as a synonym of myalgic encephalomyelitis, while others view myalgic encephalomyelitis as a distinct disease.

The information provided at this site is not intended to diagnose or treat any illness.
From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history.