Endocrine Abstracts

Introduction: The mutation at m. 3243 adenine to guanine (A>G) in mitochondrial encoded transfer-RNA Leucine 1 (MTTL1) gene is the single most prevalent disease-causing mitochondrial DNA (MtDNA) mutation, with carrier status of 1:400 in our general population. The distinct disease phenotype is dependent on the level of heteroplasmy of wild-type vs mutation-type mtDNA in the specific target tissues, ranging from Maternally inherited diabetes and Deafness (MIDD) to mitochond...