Journal article
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
M Nafisinia, LG Riley, WA Gold, K Bhattacharya, CR Broderick, DR Thorburn, C Simons, J Christodoulou
Plos One | PUBLIC LIBRARY SCIENCE | Published : 2017
Abstract
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis. Using whole exome seque..
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Awarded by National Science Foundation
Funding Acknowledgements
[ "We thank the Queensland Center for Medical Genomics and the IMB Sequencing Core for their assistance. This research was supported by Australian NHMRC grant 1026891 to J.C., an NHMRC Principal Research Fellowship to D.R.T., and an Australian Mitochondrial Disease Foundation (AMDF) PhD Scholarship to M.N. Finally, we also gratefully acknowledge donations to J.C. by the Crane and Perkins families.", "We thank the Queensland Center for Medical Genomics and the IMB Sequencing Core for their assistance. This research was supported by Australian NHMRC grant 1026891 to J.C., an NHMRC Principal Research Fellowship to D.R.T., and an Australian Mitochondrial Disease Foundation (AMDF) PhD Scholarship to M.N. Finally, we also gratefully acknowledge donations to J.C. by the Crane and Perkins families." ]