Article
Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication.
The Biochemical journal - 1 Feb 1995
Bodnar A G, Cooper J M, Leonard J V, Schapira A H
Abstract excerpt
We have characterized cultured skin fibroblasts from two siblings affected with a fatal mitochondrial disease caused by a nuclear genetic defect. Mitochondrial respiratory-chain function was severely decreased in these cells. Southern-blot analysis showed that the fibroblasts had reduced levels of mitochondrial DNA (mtDNA). The mtDNA was unstable and was eliminated from the cultured cells over many generations,...
Topics
- Blotting, Western
- Cell Division
- Cell Line
- DNA Replication
- DNA, Mitochondrial
- Electron Transport
- Female
- Fibroblasts
- Humans
- Male
- Mitochondria
- Mutation