Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 106, Issue 1, 2001, Pages 102-114

  Thorburn, David Ross ^a   Dahl, Hans Henrik M ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Genetic counseling; Mitochondrial cytopathies; Mitochondrial DNA; Nuclear transfer; Preimplantation genetic diagnosis; Prenatal diagnosis; Respiratory chain

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFECT; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REPRODUCTION; RESPIRATORY CHAIN;

EID: 0034949930     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1380     Document Type: Article

References (89)

1. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
2. Misconceptions about mitochondria and mammalian fertilization: Implications for theories on human evolution
3. Rapid segregation of heteroplasmic bovine mitochondria
4. Mitochondrial diabetes revisited
5. Prenatal diagnosis of T8993G mitochondrial DNA point mutation in amniocytes by heteroplasmy detection
6. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
7. A novel X-linked gene, G4.5. is responsible for Barth syndrome
8. Skewed segregation of the mtDNA nt8993 (T- > G) mutation in human oocytes
9. Distribution and threshold expression of the trans-RNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
10. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
11. Mitochondrial DNA heteroplasmy after human ooplasmic transplantation
12. Amplification of DNA sequences in polar bodies from human oocytes for diagnosis of mitochondrial disease
13. Random genetic drift determines the level of mutant mtDNA in human primary oocytes
14. Candidate locus for a nuclear modifier gene for maternally inherited deafness
15. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
16. Genetic counseling and prenatal diagnosis for mtDNA disease
17. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring
18. The inheritance of mitochondrial DNA heteroplasmy: Random drift, selection, or both?
19. Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs
20. Fate of microinjected sperm components in the mouse oocyte and embryo
21. Towards reliable prenatal diagnosis of mtDNA point mutations: Studies of nt8993 mutations in oocytes, fetal tissues, children, and adults
22. In situ localization of mitochondrial DNA replication in intact mammalian cells
23. Mitochondrial encephalomyopathies
24. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree
25. ESHRE preimplantation genetic diagnosis (PGD) consortium: Data collection II (May 2000)
26. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
27. Mitochondrial DNA genotypes in nuclear transfer-derived cloned sheep
28. Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency
29. The evolutionary advantage of recombination
30. Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing
31. Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA
32. Paternal inheritance of mitochondrial DNA in mice
33. Prenatal diagnosis of mitochondrial DNA(8993 T-G) disease
34. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
35. Recent advances and future developments in PGD
36. Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows
37. Evolutionary origin and consequences of uniparental mitochondrial inheritance
38. Mitochondrial gene segregation in mammals - Is the bottleneck always narrow?
39. Heteroplasmic LHON family: Tissue distribution and transmission of the 11778 mutation
40. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
41. Germline passage of mitochondria: Quantitative considerations and possible embryological sequelae
42. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
43. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
44. Gene therapy of mitochondrial diseases using human cytoplasts
45. Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder
46. Replacement of bovine mitochondrial DNA by a sequence variant within one generation
47. Construction of heteroplasmic mice containing two mitochondrial DNA genotypes by micromanipulation of single-cell embryos
48. Segregation and manifestations of the mtDNA tRNA(Lys) A- > G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome
49. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy
50. The fate of human sperm-derived mtDNA in somatic cells
51. Evidence from human oocytes for a genetic bottleneck in an mtDNA disease
52. Comparison of the relative levels of the 3243 (A- > G) mtDNA mutation in heteroplasmic adult and fetal tissues
53. Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation
54. Mitochondrial genotype segregation during preimplantation development in mouse heteroplasmic embryos
55. Mitochondrial encephalomyopathies: The enigma of genotype versus phenotype
56. The relation of recombination to mutational advance
57. Mitochondria and degenerative disorders
58. No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency
59. Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases
60. 74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, The Netherlands
61. Germ-line deletions of mtDNA in mitochondrial myopathy
62. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
63. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
64. Mitochondrial genetics '98: Is the bottleneck cracked?
65. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
66. Decrease of 3243 A- > G mtDNA mutation from blood in MELAS syndrome: A longitudinal study
67. Prevention of human mitochondrial (mtDNA) disease by nucleus transplantation into an enucleated donor oocyte
68. Systemic infantile complex I deficiency with fatal outcome in two brothers
69. The use of chorionic villi in prenatal diagnosis of mitochondriopathies
70. Mitochondrial genetics and disease
71. Mitochondrial DNA segregation in the developing embryo
72. Cytochrome c oxidase deficiency
73. Mitochondrial DNA heteroplasmy in cloned cattle produced by fetal and adult cell cloning
74. Diseases caused by nuclear genes affecting mtDNA stability
75. Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription
76. Ubiquitinated sperm mitochondria, selective proteolysis, and the regulation of mitochondrial inheritance in mammalian embryos
77. Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging
78. Practical problems in detecting abnormal mitochondrial functions and genomes
79. Respiratory chain complex I deficiency
80. Mapping of mitochondrial DNA of individual sheep and goats: Rapid evolution in the D loop region
81. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
82. Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature
83. Mouse models for mitochondrial disease
84. Genetic counselling in mitochondrial diseases
85. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
86. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
87. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation