Genetic defects causing mitochondrial respiratory chain disorders and disease

Human Reproduction

Volumn 15, Issue SUPPL. 2, 2000, Pages 28-43

  Christodoulou, John ^a,b   Jansen, Robert ^c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c NONE

Author keywords

Genetics; Mitochondria; Mitochondrial disease; Mitochondrial DNA; Respiratory chain

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

BIOCHEMISTRY; CONFERENCE PAPER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ANALYSIS; EXTRACHROMOSOMAL INHERITANCE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE SEGREGATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; MITOCHONDRION; MOLECULAR GENETICS; PHENOTYPE; POINT MUTATION; RESPIRATORY CHAIN;

EID: 0033646548     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/15.suppl_2.28     Document Type: Conference Paper

References (94)

1. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
2. A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60
3. Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems
4. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
5. Lumping or splitting? 'Ophthalmoplegia-plus' or Kearns-Sayre syndrome?
6. Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome
7. Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes
8. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
9. Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome
10. X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex
11. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
12. Reference charts for respiratory chain activities in human tissues
13. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy
14. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome
15. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3
16. Mitochondrial DNA defects: Clinical features
17. Mitochondria in neuromuscular disorders
18. Mitochondrial encephalomyopathies
19. Maternal inheritance of human mitochondrial DNA
20. Clinical features of MELAS and mitochondrial DNA mutations
21. Mitochondrial myopathies: Clinical features, investigation, treatment and genetic counselling
22. Leber's hereditary optic neuropathy
23. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1
24. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter
25. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
26. A systematic screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNAser(UCN) mutations in a subgroup with syndromeal encephalopathy
27. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p
28. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
29. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
30. Saguenay Lac Saint Jean cytochrome oxidase deficiency: Sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc
31. Biogenesis of mitochondrial proteins
32. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
33. Association of myopathy with large-scale mitochondrial DNA duplications and deletions: Which is pathogenic?
34. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA
35. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome
36. mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
37. Respiratory chain complex III deficiency: A novel vitamin responsive feature
38. A single complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome
39. Clinical presentations and laboratory investigations in respiratory chain deficiency
40. Protein import into mitochondria
41. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
42. Mitochondrial myopathy with tRNALeu(UUR) mutation and complex I deficiency responsive to riboflavin
43. Mitochondrial DNA deletions in inherited recurrent myoglobinuria
44. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic function
45. Number of mitochondria and some properties of mitochondrial DNA in the mouse egg
46. Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy
47. Prospects for DNA-based prenatal diagnosis of mitochondrial disorders
48. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
49. Therapy of mitochondrial disorders
50. Leigh syndrome: Clinical features and biochemical and DNA abnormalities
51. Normal oxidative damage to mitochondrial and nuclear DNA is extensive
52. Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase)
53. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia
54. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
55. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome
56. Aconitase and mitochondrial iron-suphur protein deficiency in Friedreich ataxia
57. Biochemical and molecular investigations in respiratory chain deficiencies
58. The role of molecular chaperones in mitochondrial protein import and folding
59. Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G
60. Mitochondrial myopathy with a defect of mitochondrial-protein transport
61. Mitochondrial DNA and the genetics of mitochondrial disease
62. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
63. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
64. A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis
65. Oxidative phosphorylation diseases and mitochondrial DNA mutations: Diagnosis and treatment
66. Oxidative phosphorylation diseases
67. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy
68. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial tRNA(Lys) mutation
69. Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNA(Leu(UUR)) gene
70. An autosomal locus predisposing to deletions of mitochondrial DNA
71. The interorganellar interaction between distinct human mitochondria with deletion mutant mtDNA from a patient with mitochondrial disease and with HeLa mtDNA
72. New mitochondrial DNA homoplasmic mutations associated with Japanese patients with type 2 diabetes
73. Mutations in SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
74. 0 transformants
75. Mitochondrial DNA alterations as a source of human disorders
76. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
77. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts and transmitochondrial cybrids
78. Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
79. Mutation in mitochondrial tRNA(leu(UUR)) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
80. Leigh syndrome, a mitochondrial encephalo(myo)pathy
81. The therapy of respiratory chain encephalomyopathy: A critical review of the past and current perspective
82. Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance
83. Maternal genes: Mitochondrial diseases
84. Mitochondrial genes and neuromuscular disease
85. Diseases of the mitochondrial DNA
86. Mitochondrial DNA variation in human evolution, degenerative disease and aging
87. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
88. Genetic counselling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993
89. Nucleus-driven mutations of human mitochondrial DNA
90. Deletions of mitochondrial DNA in Kearns-Sayre syndrome
91. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
92. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome