Research progress of mitochondrial dysfunction and hypertrophic cardiomyopathy caused by GTPBP3 gene mutation

GTP binding protein 3 (GTPBP3) is a highly conserved tRNA modifying enzyme. Mutations in GTPBP3 can affect the fidelity and efficiency of mitochondrial translation by causing defects during post-transcriptional modification of mitochondrial tRNAs, which leads the mitochondrial oxidative respiratory chain dysfunction and then triggers the rare Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) with hypertrophic cardiomyopathy, encephalopathy and lactic acidosis as the main manifestations. With the increased use of genetic test in the diagnosis of difficult and rare diseases, papers on mitochondrial diseases characterized primarily by cardiac hypertrophy due to GTPBP3 gene have emerged in recent years. This review provides an overview of recent advances in functional and clinical research on GTPBP3, that may lead to better understanding of the GTPBP3 associated mitochondrial disease.