Year: 2022
Type: preprint
Study design: Case Report
Abstract: Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes, caused by a mutation in the mitochondrial DNA (mtDNA) which impairs mitochondrial function by decreasing the efficiency of the Leucine Transfer ribonucleic acid (tRNA) in adding amino acids to developing proteins. MIDD has a prevalence of 0.5–3% among diabetic population but almost always misdiagnosed and managed as either Type 1 or Type 2 diabetes mellitus, which adversely impacts their long term outcome. So it is important to differentiate these cases early enough and to institute correct treatment. We report on 3 cases of MIDD which was confirmed by genetic testing and five of their first degree relatives with similar clinical presentation. A heteroplasmic missense mutation in the MT-TL1 gene (chrm: 3243A > G mitochondrial DNA) was detected in all three patients but genetic confirmation was not possible in their relatives for want of patient consent for genetic study. To our knowledge, this is the largest series of MIDD reported from India.
Source: Research Square
Institution: Madras Diabetes Research Foundation
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4286493916