Mutación mitocondrial en el gen mt-tl1 como causal de diabetes de herencia materna y sordera

Abstract

Diabetes of maternal inheritance and deafness is a syndrome characterized by the m mutation. 3243> G in mtDNA, discovered in 1992 as a new subtype of diabetes. According to the WHO (2019), of the total world diabetic population, 1-2% belong to monogenic types of diabetes such as MIDD syndrome; while, the prevalence of diabetes in Ecuador is 7.1 to 7.8%. The objective of this work is to genetically characterize maternal inheritance diabetes and deafness (MIDD), by means of a bibliographic review in articles and scientific journals of great impact, to identify the specific clinical disorders of this disease. We present the clinical case of a pregnant woman who presented physical decompensation upon admission to the hospital, a diagnosis of DM1 with a hereditary history and bilateral sensorineural hearing loss. Multiple examinations were performed, detecting bilateral macular dystrophy and a m.3243> G mutation in the MT-TL1 gene. The genetic test confirmed the presence of the MIDD syndrome in the patient, using the real-time PCR technique due to its sensitivity, accuracy and speed, being of great importance to detect the mutation present in the patient's mtDNA; being related to nuclear DNA due to the fact that its parents have precedents of diabetes, therefore, there is a great probability that mutations of this type exist in their nuclear DNA.