What is it about?
Maternally Inherited Diabetes and Deafness (MIDD) is a condition characterized primarily by progressive hearing impairment and by diabetes. It is inherited in a matrilinear manner (through the maternal side), often over several generations. It is a disease of the mitochondria, the “powerhouses of the cell” that produce the energy necessary for the cell's functions. We propose a novel mechanism to explain the process leading to diabetes.
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Why is it important?
MIDD is an underdiagnosed form of diabetes that occurs most commonly in male and female young and middle age adults. It is most often caused by the phenotypic variant (mutation) m.3243A>G. This mutation leads to a complex rewiring of the cell with remodeling of the expression of the genome (=chromosomes) not only in the mitochondrion but also in the nucleus
Perspectives
We propose that MIDD diabetes depends on a combination of insulin resistance and impaired insulin-producing beta cell function of the pancreas. We suggest it occurs in the presence of severe skeletal muscle impairment (high muscle heteroplasmy, >≈60%) and more moderate beta cell impairment (moderate beta cell heteroplasmy, ≈25-72%) for the most common phenotypic variant (genetic mutation m.3243A>G). Understanding the complex mechanisms of MIDD diabetes is necessary to develop disease specific management guidelines that are presently lacking.
JEAN PIERRE CHANOINE
University of British Columbia
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This page is a summary of: Diabetes Mellitus Associated with Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype, Diabetes, November 2024, American Diabetes Association,
DOI: 10.2337/db24-0515.
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