Article

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients

2025-03-17

Abstract excerpt

<h4>Objectives</h4> Mitochondrial DNA (mtDNA) mutations account for up to 5% of hereditary hearing loss cases. Most commonly, the m.3243A>G mtDNA variant contributes to rare monogenic MIDD (Maternally Inherited Diabetes and Deafness) or MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndromes. Different proportions of the mutated mtDNA (heteroplasmy) among the affected tissues resu...

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Literature Corpus work: b244cecb-f8ed-5505-a264-44918d26538e
DOI: 10.1101/2025.03.13.25321027

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