Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl‐tRNA synthetase and prolyl‐tRNA synthetase, in patients with Alpers syndrome

This report links for the first time mutations in these genes to human disease in general and to Alpers syndrome in particular. The molecular defects underlying Alpers syndrome are poorly understood. With the help of whole exome sequencing we have detected mutations in NARS2 and PARS2, the genes encoding the mitochondrial asparaginyl‐ and prolyl‐tRNA synthetases in two patients with Alpers syndrome. To the best of our knowledge, this is the first report linking these two genes to human disease.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research