MT-TG
| mitochondrially encoded tRNA glycine | |
|---|---|
| Identifiers | |
| Symbol | MT-TG |
| Alt. symbols | MTTG |
Chr. MT [1] | |
Mitochondrially encoded tRNA glycine also known as MT-TG is a transfer RNA which in humans is encoded by the mitochondrial MT-TG gene.[1]
Structure
The MT-TG gene is located on the
tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover.[3]
Function
MT-TG is a small 68 nucleotide
translation
.
Clinical significance
Myoclonic epilepsy with ragged-red fibers (MERRF)
Mutations in
muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family. Common clinical manifestations include myoclonus, myopathy, spasticity, epilepsy, peripheral neuropathy, dementia, ataxia, atrophy and more.[4][5]
Familial hypertrophic cardiomyopathy
Mutations in the MT-TG gene has also been associated with familial
fainting.[6] A family with a transition mutation of 9997T>C in the MT-TG gene exhibited familial hypertrophic cardiomyopathy.[7]
References
- S2CID 4355527.
- ^ "MT-TG mitochondrially encoded tRNA glycine [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
- ^ "tRNA / transfer RNA | Learn Science at Scitable". www.nature.com.
- ^ "Myoclonic epilepsy with ragged-red fibers". Genetics Home Reference. U.S. National Library of Medicine.
- S2CID 7285265.
- ^ "Familial hypertrophic cardiomyopathy". Genetics Home Reference. U.S. National Library of Medicine.
- PMID 8079988.
Further reading
- Bidooki SK, Johnson MA, Chrzanowska-Lightowlers Z, Bindoff LA, Lightowlers RN (June 1997). "Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes". American Journal of Human Genetics. 60 (6): 1430–8. PMID 9199564.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.