Article
Stable nuclear expression of ATP8 and ATP6 genes rescues a mtDNA Complex V null mutant.
Nucleic acids research - 2 Nov 2016
Boominathan Amutha, Vanhoozer Shon, Basisty Nathan, Powers Kathleen, Crampton Alexandra L, Wang Xiaobin, Friedricks Natalie, Schilling Birgit, Brand Martin D, O'Connor Matthew S
Abstract excerpt
We explore the possibility of re-engineering mitochondrial genes and expressing them from the nucleus as an approach to rescue defects arising from mitochondrial DNA mutations. We have used a patient cybrid cell line with a single point mutation in the overlap region of the ATP8 and ATP6 genes of the human mitochondrial genome. These cells are null for the ATP8 protein, have significantly lowered ATP6 protein...
Topics
- Adenosine Triphosphatases
- Adenosine Triphosphate
- Carrier Proteins
- Cell Line
- Cell Nucleus
- DNA Mutational Analysis
- Gene Expression
- Genes, Mitochondrial
- Genetic Complementation Test
- Hydrolysis
- Membrane Proteins
- Mitochondria
- Mitochondrial Proton-Translocating ATPases