Molecular genetic analysis of the m.A3243G mutation of the tRNALeu (UUR) gene in a population of Moroccan deaf diabetics

Background: The mitochondrial DNA (mtDNA) m.A3243G mutation of the tRNALeu (UUR) gene presents clinically heterogeneous phenotypes and is often responsible for diabetes, with or without deafness syndrome. The aim of this study was to search for this pathogenic mutation in 3 diabetics with bilateral deafness and a family history of diabetes.Methods: mtDNA was extracted from the patients' whole blood. After PCR amplification, the DNA was sequenced and analyzed.Results: The sequencing results showed the absence of the most common mtDNA mutation m.A3243G in diabetic families with individuals who suffer from hearing loss.Conclusions: The m.A3243G mutation in the mitochondrial tRNALeu (UUR) Leu gene was not found to be a common cause of type 2 diabetes and deafness. These results suggest that there may be genetic causes for this phenotype.Keywords: Diabetes; Deafness; M.