NDUFA2 complex I mutation leads to Leigh disease.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 18513682.
- Also identified by DOI 10.1016/j.ajhg.2008.05.007 and PMC identifier 2427319.
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Abstract
Mitochondrial isolated complex I deficiency is the most frequently encountered OXPHOS defect. We report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscle tissue. Because the parents were consanguineous, we performed homozygosity mapping to identify homozygous regions containing candidate genes such as NDUFA2 on chromosome 5. Screening of this gene on genomic DNA revealed a mutation that interferes with correct splicing and results in the skipping of exon 2. Exon skipping was confirmed on the mRNA level. The mutation in this accessory subunit causes reduced activity and disturbed assembly of complex I. Furthermore, the mutation is associated with a mitochondrial depolarization. The expression and activity of complex I and the depolarization was (partially) rescued with a baculovirus system expressing the NDUFA2 gene.
Medical subject headings
- Electron Transport Complex I
- Leigh Disease
- Mutation