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

Ear and hearing - 1 Jan 2026

Varga Lukas, Borecka Silvia, Skopkova Martina, Rambani Vibhuti, Sklenar Marek, Cipkova Klaudia, Kickova Terezia, Ugorova Diana, Kabatova Zuzana, Stanik Juraj, Profant Milan, Gasperikova Daniela

Abstract excerpt

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

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41664274
DOI: 10.1097/AUD.0000000000001780
PMCID: PMC13068446

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