MT-TL1
| mitochondrially encoded tRNA leucine 1 (UUA/G) | |
|---|---|
| Identifiers | |
| Symbol | MT-TL1 |
| Alt. symbols | MTTL1 |
| NCBI gene | 4567 |
| HGNC | 7490 |
| OMIM | 590050 |
| RefSeq | NC_001807 |
| Other data | |
| Locus | Chr. MT [1] |
Mitochondrially encoded tRNA leucine 1 (UUA/G) also known as MT-TL1 is a transfer RNA which in humans is encoded by the mitochondrial MT-TL1 gene.[1]
Function
MT-TL1 is a small 75 nucleotide RNA (human mitochondrial map position 3230-3304) that transfers the amino acid leucine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Clinical significance
It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).[2]
One common mutation is A3243G. This mutation has been theorized to be associated with several other mitochondrial diseases,[3] including diabetes mellitus and deafness.[4][5]
See also
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. doi:10.1038/290457a0. PMID 7219534.
- ^ Yasukawa T, Suzuki T, Ueda T, Ohta S, Watanabe K (February 2000). "Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes". J. Biol. Chem. 275 (6): 4251–7. doi:10.1074/jbc.275.6.4251. PMID 10660592.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Finsterer J (2007). "Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation". Acta Neurol. Scand. 116 (1): 1–14. doi:10.1111/j.1600-0404.2007.00836.x. PMID 17587249.
- ^ Reardon W, Ross RJ, Sweeney MG, et al. (1992). "Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA". Lancet. 340 (8832): 1376–9. doi:10.1016/0140-6736(92)92560-3. PMID 1360090.
- ^ Cristina Mazzaccara; Dario Iafusco; Rosario Liguori; Maddalena Ferrigno; Alfonso Galderisi; Domenico Vitale; Francesca Simonelli; Paolo Landolfo; Francesco Prisco; Mariorosario Masullo; Lucia Sacchetti (2012-04-19). "Mitochondrial Diabetes in Children: Seek and You Will Find It". PLOS ONE. 7: e34956. doi:10.1371/journal.pone.0034956. Retrieved 2013-02-28.
We sequenced the mtDNA in the 11 probands, in their mothers and in 80 controls. We identified 33 diabetes-suspected mutations, 1/33 was 3243A>G. Most patients (91%) and their mothers had mutations in complex I and/or IV of the respiratory chain.
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External links
- GeneReviews/NCBI/NIH/UW entry on Mitochondrial DNA-Associated Leigh Syndrome and NARP
- GeneReviews/NCBI/NIH/UW entry on MELAS
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