Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Javascript disabled

Please enable Javascript support in your browser to use this application.

Instructions on how to enable JavaScript on different browsers can be found here: http://www.google.com/support/bin/answer.py?answer=23852.

[edit this page]

Gene Review:

TRNL1 - tRNA

Homo sapiens

Synonyms: MT-TL1, mitochondrially encoded tRNA leucine 1 (UUA/G)

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

Sinnathuray, Raut, Awa, Magee, Toner,

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

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]

Contributions to this collaborative article are from individual authors of WikiGenes or mined by the WikiGenes Data Mining Engine from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.About WikiGenes Open Access Licence Privacy Policy Terms of Use

[search][advanced]