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Gene Review:

MT-TL1 - mitochondrially encoded tRNA leucine 1...

Homo sapiens

Synonyms: TRNL1, tRNA

Fan, H. et al., Gruissem, W. et al., Bi, W.L. et al., Sinnathuray, A.R. et al.

Sinnathuray, Raut, Awa, Magee, Toner,

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Disease relevance of MT-TL1

The 3243A>G mutation in the MTTL1 (tRNA(Leu)) gene and the 8344A>G mutation in the MTTK (tRNA(Lys)) gene are the most common mutations found in mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes and myoclonic epilepsy associated with ragged-red fibers, respectively [1].

High impact information on MT-TL1

The RNA polymerase contained in the chloroplast extract transcribes the spinach chloroplast trnM2, trnV1, and trnl1 loci and the trnV1-trnN1-trnR1-trnL1 cluster in the EcoG fragment of the Euglena chloroplast genome [2].
Genetic testing from peripheral blood confirmed an A3243G transition in the patient's MTTL1 gene encoding the transfer RNA for leucine [3].
Mitochondrial SNHL may also be syndromic, associated with the A3243G point mutation in the MTTL1 gene [4].

References

Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy, Lactic Acidosis with Stroke-Like Episodes MTTL1 3243 A>G and Myoclonic Epilepsy Associated with Ragged-Red Fibers MTTK 8344A>G) by Real-Time Polymerase Chain Reaction. Fan, H., Civalier, C., Booker, J.K., Gulley, M.L., Prior, T.W., Farber, R.A. The Journal of molecular diagnostics : JMD. (2006) [Pubmed]
Biosynthesis of chloroplast transfer RNA in a spinach chloroplast transcription system. Gruissem, W., Greenberg, B.M., Zurawski, G., Prescott, D.M., Hallick, R.B. Cell (1983) [Pubmed]
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. Bi, W.L., Baehring, J.M., Lesser, R.L. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society (2006) [Pubmed]
A review of cochlear implantation in mitochondrial sensorineural hearing loss. Sinnathuray, A.R., Raut, V., Awa, A., Magee, A., Toner, J.G. Otol. Neurotol. (2003) [Pubmed]

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