Valyl-tRNA synthetase 2, mitochondrial
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Valyl-tRNA synthetase 2, mitochondrial or Valine--TRNA Ligase, Mitochondrial or VARS2 or VARS2L or VARSL or DKFZP434L1435 or G7a or KIAA1885 is a protein encoded by the VARS2 gene. VARS2 encodes mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation.[1][2]
Function[edit | edit source]
VARS2 gene mutations cause combined oxidative phosphorylation deficiency-20, and are associated with:
- early-onset mitochondrial encephalopathies
- neurodevelopmental disorder With microcephaly (unusually small skull will be visible at birth)
- seizures
- cortical atrophy (a wasting in part of the brain matter)[1][2]
ME/CFS[edit | edit source]
The ME/CFS Gene Study is still collecting data, but the pilot study publication by Perez et al. (2019) found that VARS2 was one of the ten relatively common genes or gene variants that were both significantly more common in people with ME/CFS, and likely to be harmful.[3]
Notable studies[edit | edit source]
- 2019, Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study[3](Full text)
See also[edit | edit source]
Learn more[edit | edit source]
- VARS2 - The Human Protein Atlas
- VARS2 Gene - Gene cards
References[edit | edit source]
- ↑ 1.01.1 "VARS2 protein expression summary". The Human Protein Atlas. Retrieved January 16, 2022.
- ↑ 2.02.1 "VARS2 Gene". Gene Cards. Retrieved January 16, 2022.
- ↑ 3.03.1 Nathanson, Lubov; Craddock, Travis J.A.; Klimas, Nancy G.; Gemayel, Kristina; Del Alamo, Ana; Hilton, Kelly; Jaundoo, Rajeev; Perez, Melanie (2019). "Genetic Predisposition for Immune System, Hormone, and Metabolic Dysfunction in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Pilot Study". Frontiers in Pediatrics. 7: 206. doi:10.3389/fped.2019.00206. ISSN 2296-2360.
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.
atrophy A decrease in size or wasting away of a body part, e.g. muscle wasting or progressive decline. (Learn more: me-pedia.org)
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.
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.
