Towards reliable prenatal diagnosis of mtDNA point mutations: Studies of nt8993 mutations in oocytes, fetal tissues, children and adults

Human Reproduction

Volumn 15, Issue SUPPL. 2, 2000, Pages 246-255

  Dahl, H H M ^a   Thorburn, D R ^a   White, S L ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Leigh disease; Mitochondrial bottleneck; mtDNA mutations; NARP; Prenatal diagnosis

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ANIMAL CELL; ATAXIA; CELLULAR DISTRIBUTION; CHILD; CONFERENCE PAPER; EMBRYO; EMBRYONAL TISSUE; FETUS; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; HUMAN; HUMAN CELL; LEIGH DISEASE; MOUSE; NEUROPATHY; NONHUMAN; OOCYTE; OUTCOMES RESEARCH; POINT MUTATION; PREDICTION; PRENATAL DIAGNOSIS; RETINITIS PIGMENTOSA;

ANIMALIA; ATAXIA;

EID: 0033652899     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/15.suppl_2.246     Document Type: Conference Paper

References (40)

1. Prenatal diagnosis of T8993G mitochondrial DNA point mutation in amniocytes by heteroplasmy detection
2. Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes
3. Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy
4. Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous
5. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
6. Maternally inherited Leigh syndrome
7. Mitochondrial DNA gets the drift
8. The mechanism of ATP synthase: A reassessment of the functions of the b and a subunits
9. Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation
10. Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome
11. H+ transport and coupling by the F0 sector of the ATP synthase: Insights into the molecular mechanism of function
12. Prenatal diagnosis of mitochondrial DNA8993 T to G disease
13. 0-ATP synthase from Escherichia coli. A model for human mitochondrial disease
14. Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows
15. Transmission genetics of mammalian mitochondria: A molecular model and experimental evidence
16. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
17. Altered properties of mitochondrial ATP-synthase in patients with a T→G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA
18. Origin, cellular expression, and cybrid transmission of mitochondrial CAP-R, PYR-IND, and OLI-R mutant phenotypes
19. The bottleneck: Mitochondrial imperatives in oogenesis and ovarian follicular fate
20. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
21. Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
22. Variable genotype of Leber's hereditary optic neuropathy patients
23. Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: Support for a genetic bottleneck
24. Evidence from human oocytes for a genetic bottleneck in an mtDNA disease
25. Comparison of the relative levels of the 3243 (A→G) mtDNA mutation in heteroplasmic adult and fetal tissues
26. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
27. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
28. Noninvasive diagnosis of the MELAS syndrome from blood DNA
29. Leigh syndrome: Clinical features and biochemical and DNA abnormalities
30. MtDNA and nuclear mutations affecting oxidative phosphorylation: Correlating severity of clinical defect with extent of bioenergetic compromise
31. A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome
32. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A)
33. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria
34. De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring
35. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: A clinical, biochemical, and molecular study in six families
36. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
37. Genetic counselling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
38. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue or age-related variation
39. Two cases of prenatal diagnosis for the pathogenic T to C substitution at nucleotide 8993 in mitochondrial DNA