AI Article Synopsis
- A novel mitochondrial mutation (T4681C) linked to Leigh Syndrome was identified, showing a specific defect in complex I activity in the patient's cells.
- Biochemical studies confirmed that this mutation affects mitochondrial function, as evidenced by the consistent complex I deficiency in various tissue samples.
- The mutation causes a significant amino acid change (L71P) that disrupts the assembly of complex I, indicating a potential mechanism for the disease's progression.
Article Abstract
We describe a novel mitochondrial ND2 mutation (T4681C) in a patient presenting with Leigh Syndrome. Biochemical analyses revealed a low isolated complex I activity in patient's fibroblasts, blood and skeletal muscle. Mutant transmitochondrial cybrid clones retained the specific complex I defect, demonstrating the mitochondrial genetic origin of the disease. The mutation leads to a L71P substitution at an evolutionary conserved amino acid stretch. By two-dimensional blue native electrophoresis (2D-BN-SDS-PAGE), decreased complex I levels were observed together with an accumulation of specific assembly intermediates, suggesting that the mutation disturbs the complex I assembly pathway.
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| http://dx.doi.org/10.1016/j.ymgme.2006.08.003 | DOI Listing |
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