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  • Title: A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness.
    Author: Bannwarth S, Abbassi M, Valéro R, Fragaki K, Dubois N, Vialettes B, Paquis-Flucklinger V.
    Journal: Diabetes Care; 2011 Dec; 34(12):2591-3. PubMed ID: 21994425.
    Abstract:
    OBJECTIVE: The m.3243A>G mutation in mitochondrial DNA (mtDNA) is responsible for maternally inherited diabetes and deafness (MIDD). Other mtDNA mutations are extremely rare. RESEARCH DESIGN AND METHODS: We studied a patient presenting with diabetes and deafness who does not carry the m.3243A>G mutation. RESULTS: We identified a deficiency of respiratory chain complex I in the patient's fibroblasts. mtDNA sequencing revealed a novel mutation that corresponds to an insertion of one or two cytosine residues in the coding region of the MT-ND6 gene (m.14535_14536insC or CC), leading to premature stop codons. This heteroplasmic mutation is unstable in the patient's somatic tissues. CONCLUSIONS: We describe for the first time an unstable mutation in a mitochondrial gene coding for a complex I subunit, which is responsible for the MIDD phenotype. This mutation is likely favored by the m.14530T>C polymorphism, which is homoplasmic and leads to the formation of an 8-bp polyC tract responsible for genetic instability.
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