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Gene Review:

TRK-TTT3-4 - transfer RNA-Lys (TTT) 3-4

Homo sapiens

Synonyms: TRK1, TRNAK1

Muñoz-Málaga, A. et al., Schoffer, K. et al., Hanna, M.G. et al., Mancuso, M. et al., May, F.E. et al.

Schoffer, Grant,

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Disease relevance of TRNAK1

The primer-binding site is complementary to tRNA lysine, the primer used by MuMTV and HTLV-III [1].
Multiple symmetric lipomatosis (MSL) has been related in some cases to the 8344 point mutation of the tRNA-lysine gene of the mitochondrial DNA, mainly in the context of families with classic myoclonic epilepsy with ragged-red fibers (MERRF) and exceptionally in patients with proximal myopathy as the only manifestation of mitochondrial disease [2].
This report shows that typical MERRF syndrome is not always associated with tRNA lysine mutations [3].

High impact information on TRNAK1

The eventual development of proximal weakness led to pathological and genetic testing which identified a A8344G mutation in the mitochondrial tRNA lysine gene, associated with MERRF (myoclonic epilepsy with ragged-red fibers) [4].
Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A-->G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA [5].

References

Structure of a human retroviral sequence related to mouse mammary tumor virus. May, F.E., Westley, B.R. J. Virol. (1986) [Pubmed]
Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy? Muñoz-Málaga, A., Bautista, J., Salazar, J.A., Aguilera, I., Garcia, R., Chinchon, I., Segura, M.D., Campos, Y., Arenas, J. Muscle Nerve (2000) [Pubmed]
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Mancuso, M., Filosto, M., Mootha, V.K., Rocchi, A., Pistolesi, S., Murri, L., DiMauro, S., Siciliano, G. Neurology (2004) [Pubmed]
Multiple lipomas, alcoholism, and neuropathy: Madelung's disease or MERRF? Schoffer, K., Grant, I. Muscle Nerve (2006) [Pubmed]
Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A-->G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA. Hanna, M.G., Nelson, I.P., Morgan-Hughes, J.A., Harding, A.E. J. Neurol. Sci. (1995) [Pubmed]

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