mitochondrial tRNA synthetases

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, _.

To date, nine nuclear encoded mitochondrial tRNA synthetases have been implicated in human disease, including DARS2 causing leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, HARS2 with Perrault Syndrome, and AARS2 causing fatal infantile cardiomyopathy.

Recently, two groups have reported mutations in mitochondrial phenylalanyl–tRNAsynthetase (FARS2) leading to  infantile onset epilepsy, and a fatal Alpers-like encephalopathy (Almalki et al, BiochimBiophysActa 2014: 1842:56-64; Elo et al Hum Mol Genet 2012:  21: 4521-9).

Considering that there are 19 nuclear encoded mitochondrial tRNA synthetases, it is highly likely that new disease associations will continue to be made.

Hilary Vernon, MD PhD


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