AI Article Synopsis
- The study focuses on a patient with diabetes and deafness who lacks the common m.3243A>G mutation linked to these conditions.
- Researchers identified a new mitochondrial mutation (m.14535_14536insC or CC) that causes a deficiency in respiratory chain complex I, which is critical for cellular energy production.
- This novel, unstable mutation is associated with the MIDD phenotype and is likely influenced by another genetic variation (m.14530T>C) that promotes instability in the mitochondrial DNA.
Article 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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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220838 | PMC |
| http://dx.doi.org/10.2337/dc11-1012 | DOI Listing |
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