The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines

Human Mutation

Volumn 19, Issue 3, 2002, Pages 234-239

  Bornstein, Belén ^a,b   Mas, Jose Antonio ^a   Fernández Moreno, Miguel Angel ^a   Campos, Yolanda ^b   Martín, Miguel Angel ^b   Del Hoyo, Pilar ^b   Rubio, Juan Carlos ^b   Arenas, Joaquín ^b   Garesse, Rafael ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

CMH; Cybrid; Deafness; Diabetes mellitus; MERRF; Mitochondrial pathology; mtDNA; MTTK; Transmitochondrial; tRNALys; Trophic cardiomyopathy

Indexed keywords

GALACTOSE; LACTIC ACID; LUNG ENZYME; MITOCHONDRIAL DNA;

ARTICLE; CYBRID; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; MUTANT; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; PATHOGENICITY; PRIORITY JOURNAL;

ADENINE; CELL FUSION; CELL LINE; DNA, MITOCHONDRIAL; FEMALE; FIBROBLASTS; GUANINE; HUMANS; HYBRID CELLS; MALE; MERRF SYNDROME; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION;

EID: 0036190102     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10050     Document Type: Article

References (13)

1. Fatal hypertrophyc cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA (Lys) gene
2. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy
3. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers
4. In vivo labeling and analysis of human mitochondrial translation products
5. Mutations in mtDNA: Are we scraping the bottom of the barrel?
6. Impaired insuline secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA (Lys)
7. Novel mitochondrial DNA mutation in tRNA (Lys) (8296 A - >G) associated with diabetes
8. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
9. Sub-fractionation of mitochondria and isolation of the proteins of oxidative phosphorylation
10. The genetics and pathology of oxidative phosphorylation
11. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders
12. 0 degrees transformants
13. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy