MT-TY
From Wikipedia, the free encyclopedia
Function
MT-TY is a small 66 nucleotide RNA (human mitochondrial map position 5826-5891) that transfers the amino acid tyrosine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Clinical significance
Mutations in MT-TY have been associated with mitochondrial complex III deficiency, a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the skeletal muscles. Common clinical manifestations include muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). Additional symptoms may also arise depending on the severity of the condition.[4] A patient with a mutation of the gene exhibited complex III deficiency, characterized by high levels of cytochrome c oxidase–deficient fibers with symptoms of weakness and fatigue.[5] A 5874A-G mutation was also found in a patient with the condition.[6]
Changes in MT-TY may also result in progressive external ophthalmoplegia. Progressive external ophthalmoplegia is characterized by weakness of the eye muscles. Common symptoms of the disorder include hearing loss, loss of sensation in the limbs, ataxia, and neuropathy.[7] A 5885T deletion[8] and 5877G-A substitution[9] have been associated with the disease.
References
- ↑ Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (April 1981). "Sequence and organization of the human mitochondrial genome". Nature. 290 (5806): 457–65. Bibcode:1981Natur.290..457A. doi:10.1038/290457a0. PMID 7219534. S2CID 4355527.
- ↑ "MT-TY mitochondrially encoded tRNA tyrosine [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov.
- ↑ "tRNA / transfer RNA". Learn Science at Scitable.
- ↑ Reference, Genetics Home. "Mitochondrial complex III deficiency". Genetics Home Reference.
- ↑ Meulemans A, De Paepe B, De Bleecker J, Smet J, Lissens W, Van Coster R, De Meirleir L, Seneca S (September 2007). "Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy". Archives of Neurology. 64 (9): 1339–43. doi:10.1001/archneur.64.9.1339. PMID 17846276.
- ↑ Pulkes T, Siddiqui A, Morgan-Hughes JA, Hanna MG (October 2000). "A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance". Neurology. 55 (8): 1210–2. doi:10.1212/wnl.55.8.1210. PMID 11071502. S2CID 28303519.
- ↑ Reference, Genetics Home. "Progressive external ophthalmoplegia". Genetics Home Reference.
- ↑ Raffelsberger T, Rossmanith W, Thaller-Antlanger H, Bittner RE (December 2001). "CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene". Neurology. 57 (12): 2298–301. doi:10.1212/wnl.57.12.2298. PMID 11756614. S2CID 35762588.
- ↑ Sahashi K, Yoneda M, Ohno K, Tanaka M, Ibi T, Sahashi K (October 2001). "Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia". Journal of Medical Genetics. 38 (10): 703–5. doi:10.1136/jmg.38.10.703. PMC 1734734. PMID 11594340.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.