Mitochondrial DNA

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. A 1996 study suggested that this could happen due to the midpiece mitochondrial sheath of sperm enters the egg at fertilization.

Mitochondrial DNA in relation to ME/CFS

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.

Research studies

• 1999, In vitro Study of Muscle Aerobic Metabolism in Chronic Fatigue Syndrome
• 2016, Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms (Full Text)
• 2016, Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome (Full Text)
• 2019, MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: A study of mildly deleterious variants

See also

• Mitochondrion

Learn more

• Wikipedia - Mitochondrial DNA
• 1996, Misconceptions about mitochondria and mammalian fertilization: Implications for theories on human evolution (Full Text)
• 2016, Mitochondrial DNA Variations May Spur Symptoms in People with Form of Chronic Fatigue
• 2016, "Evaluating the involvement of mtDNA variants in patients diagnosed with myalgic encephalomyelitis" by HC van Dyk
• 2018, Not Your Mom’s Genes: Mitochondrial DNA Can Come from Dad

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.

See myalgic encephalomyelitis.

See chronic fatigue syndrome.

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".

myalgic encephalomyelitis (M.E.) - 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.