Article
Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.
Human genetics - 1 Sept 1995
Matthews P M, Brown R M, Morten K, Marchington D, Poulton J, Brown G
Abstract excerpt
Studies in vitro have shown that a respiratory-deficient phenotype is expressed by cells when the proportion of mtDNA with a disease-associated mutation exceeds a threshold level, but analysis of tissues from patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) have failed to show a consistent relationship between the degree of heteroplasmy and biochemical expression of...
Topics
- Adolescent
- Adult
- Cell Division
- Cell Fusion
- Cell Line
- Child
- Clone Cells
- DNA, Mitochondrial
- Female
- Fibroblasts
- Humans