Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

Abstract

We describe an A-to-G transition at nucleotide 10044 in the tRNA Gly gene of mitochondrial DNA in a sibship in which the proband died at age 8 years after a severe encephalopathy, a brother died of sudden and unexpected death, and the other six siblings had a combination of symptoms, including apparent life-threatening events and gastroesophageal reflux. This novel mutation was very abundant (>90%) in liver and muscle of the proband and in several tissues, including blood, from his affected siblings (range 91–99%) but was less abundant in blood from the asymptomatic mother (88%) and maternal grandmother (85%). Our findings further enlarge the spectrum of clinical presentations associated with mitochondrial DNA mutations.