The study aimed to compare the incidence of the pathogenic point mutation A3243G in the gene tRNALeu(UUR) indicating sub-type 2 diabetes mellitus conducted within the Nigerian population with that reported in other populations. 112 patients diagnosed with type 2 diabetes (T2D) mellitus according to the World Health Organization criteria were selected based on family history and re-evaluated for associated disorders from the diabetic clinics in the Northern part of Nigeria. The mtDNA of these patients was extracted and the tRNALeu(UUR) gene screened for A3243G by PCR-RFLP method. Probands with maternal history were further investigated for other mutations using PCR-sequencing methods. None of the 112 patients were found to carry the A3243G mutation in the mitochondrial tRNALeu(UUR) gene in the homoplasmic or in the heteroplasmic form. However, C3254T was identified in two of our patients. This mutation was reported to be associated with gestational diabetes and linked with population from sub-Saharan Africa. The A3243G mutation in mitochondrial tRNALeu(UUR) is not a frequent cause of maternal diabetes in the Nigerian population contrary to other reported populations. However, further screening of an enlarged selected study group is necessary to fully determine the prevalence of this mutation in this population. This further search will help to fully appreciate the prevalence of maternal inheritance and diabetic deafness (MIDD) as extensively reported in other populations.Key words: Maternal diabetes, mitochondrial gene, maternal Inheritance and diabetic deafness, Nigeria, sub-Saharan Africa
