TRMT5 mutations are associated with features of complex hereditary spastic paraparesis

Mitochondrial DNA (mtDNA) encodes for 22 tRNAs (mt-tRNA) that undergo posttranscriptional modification.1,2 A specific nucleotide adjacent to the anticodon of mt-tRNA (position 37) is methylated (m1G37) to enhance translational efficiency/fidelity.3 The gene tRNA methyltransferase 5 (TRMT5) encodes a protein involved in m1G37 formation for some mitochondrial tRNAs3,4 and has been associated with combined oxidative phosphorylation deficiency 26 (COXPD26) (OMIM 616539).

Source: Neurology - November 20, 2017 Category: Neurology Authors: Tarnopolsky, M. A., Brady, L., Tetreault, M., For the Care4Rare Canada Consortium Tags: Spastic paraplegia, Muscle disease, Mitochondrial disorders CLINICAL/SCIENTIFIC NOTES Source Type: research