Article
Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.
The Journal of biological chemistry - 22 Jul 1994
Hayashi J, Ohta S, Kagawa Y, Takai D, Miyabayashi S, Tada K, Fukushima H, Inui K, Okada S, Goto Y
Abstract excerpt
mtDNA with a point mutation in the tRNA(Ile) gene at nucleotide position 4269 found in a patient with fatal cardiomyopathy and mtDNA with a point mutation in the tRNA(Arg) gene at 10410 found in a patient with Alpers disease were transferred cytoplasmically to rho zero HeLa cells (HeLa cells lack...
Topics
- Cardiomyopathies
- DNA, Mitochondrial
- Diffuse Cerebral Sclerosis of Schilder
- Electron Transport Complex IV
- HeLa Cells
- Humans
- Hybrid Cells
- MELAS Syndrome
- Mitochondria
- Mutation
- Oxygen Consumption
- Point Mutation
- RNA
- RNA, Mitochondrial
- RNA, Transfer, Ile