A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.

@article{Potluri2009ANN,
  title={A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.},
  author={Prasanth Potluri and Antonio Davila and Eduardo Ruiz-Pesini and Dan Mishmar and Sean O'Hearn and Saege Hancock and Mariella T Simon and Immo E. Scheffler and Douglas C. Wallace and Vincent Procaccio},
  journal={Molecular genetics and metabolism},
  year={2009},
  volume={96 4},
  pages={189-95}
}
Mitochondrial diseases have been shown to result from mutations in mitochondrial genes located in either the nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). Mitochondrial OXPHOS complex I has 45 subunits encoded by 38 nuclear and 7 mitochondrial genes. Two male patients in a putative X-linked pedigree exhibiting a progressive neurodegenerative disorder and a severe muscle complex I enzyme defect were analyzed for mutations in the 38 nDNA and seven mtDNA encoded complex I subunits. The nDNA X… CONTINUE READING