Article
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus.
Nature genetics - 1 Apr 2002
Manfredi Giovanni, Fu Jin, Ojaimi Joseline, Sadlock James E, Kwong Jennifer Q, Guy John, Schon Eric A
Abstract excerpt
A T-->G transversion at nt 8993 in mitochondrial DNA of MTATP6 (encoding ATPase 6 of complex V of the respiratory chain) causes impaired mitochondrial ATP synthesis in two related mitochondrial disorders: neuropathy, ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome. To overcome the biochemical defect, we expressed wildtype ATPase 6 protein allotopically from nucleus-transfected constructs...
Topics
- Adenosine Triphosphatases
- Adenosine Triphosphate
- Alleles
- Amino Acid Sequence
- Animals
- Blotting, Western
- Cell Line
- Cell Nucleus
- Chromosome Mapping
- Codon
- Cytosol
- DNA, Mitochondrial
- Epitopes
- Humans