Mitochondrial TRNK gene
The mitochondrial gene MT-TK encodes a transport RNA (tRNA) for lysine (K). The gene is encoded by nucleotides 8295-8364. Diseases caused by mutations include MERFF syndrome, sensorineural deafness, cardiomyopathy, neurogastrointestinal encephalomyopathy, diabetes, and ophthalmoplegia. The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Enriquez JA et al. (1995) MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination.
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2. |
Chomyn A et al. (1991) In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.
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3. |
Zeviani M et al. (1991) Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).
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4. |
Shih KD et al. (1991) Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease.
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5. |
Noer AS et al. (1991) A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.
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6. |
Tanno Y et al. (1991) Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients.
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7. |
Biancheri R et al. (2010) Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation.
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8. |
Shoffner JM et al. (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.
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9. |
Yoneda M et al. (1990) A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.
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10. |
Rahman S et al. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities.
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11. |
Suomalainen A et al. (1993) Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease.
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12. |
Silvestri G et al. (1993) Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
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13. |
Chomyn A et al. (1994) Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.
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14. |
Fang W et al. (1994) Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.
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15. |
Hammans SR et al. (1993) The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.
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16. |
Santorelli FM et al. (1996) Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).
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17. |
Verma A et al. (1997) A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy.
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18. |
None (1998) The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.
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19. |
Horvath R et al. (2007) Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.
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20. |
Kameoka K et al. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes.
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21. |
Börner GV et al. (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.
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22. |
Nakamura M et al. (2010) MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
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23. |
Zeviani M et al. (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
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24. |
Tiranti V et al. (1999) A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus.
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25. |
Penisson-Besnier I et al. (1992) Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins.
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26. |
Boulet L et al. (1992) Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
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27. |
Silvestri G et al. (1992) A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
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28. |
Shoffner JM et al. (1992) Mitochondrial genetics: principles and practice.
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29. |
Rossmanith W et al. (2003) The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.
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30. |
Lertrit P et al. (1992) Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy.
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31. |
Kraytsberg Y et al. (2004) Recombination of human mitochondrial DNA.
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32. |
Zsurka G et al. (2005) Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.
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33. |
Seibel P et al. (1991) Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).
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34. |
Berkovic SF et al. (1991) Clinical spectrum of mitochondrial DNA mutation at base pair 8344.
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35. |
Mahata B et al. (2006) Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells.
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36. |
Zsurka G et al. (2007) Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis.
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37. |
NCBI article
NCBI 4566
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38. |
OMIM.ORG article
Omim 590060
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39. |
Orphanet article
Orphanet ID 138900
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Update: Aug. 14, 2020