Epidemiology and treatment of mitochondrial disorders

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 106, Issue 1, 2001, Pages 94-101

  Wallace, Douglas C ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Gene therapy; Genetic epidemiology; LHON; MELAS; MERRF; Mitochondrial disease; mtDNA

Indexed keywords

ASCORBIC ACID; CARNITINE; CORTICOSTEROID; CREATINE; DICHLOROACETIC ACID; IDEBENONE; MENADIONE; MITOCHONDRIAL DNA; RIBOFLAVIN; SUCCINIC ACID; THIAMINE; UBIQUINONE;

ARTICLE; DIAGNOSTIC ACCURACY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; GENE THERAPY; GENETIC EPIDEMIOLOGY; HUMAN; PRIORITY JOURNAL; RESPIRATORY CHAIN;

DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; PHENOTYPE;

EID: 0034956801     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1426     Document Type: Article

References (84)

1. Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
2. 31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative peformance improvement with coenzyme Q in mitochondrial myopathies
3. Treatment of complex I deficiency with riboflavin
4. Relaxed and stringent genomes: Why cytoplasmic genes don't obey Mendel's laws
5. Ischaemic stroke in adults younger than 30 years of age
6. Ubidecarenone in the treatment of mitochondrial myopathies: A multi-center double-blind trial
7. Mitochondrial DNA analysis: Polymorphisms and pathogenicity
8. Peptide nucleic acid delivery into human mitochondria
9. The spectrum of hearing loss due to mitochondrial DNA defects
10. Epidemiology of pathogenic mitochondrial DNA mutations
11. Correction of a mitochondrial DNA defect in human skeletal muscle
12. 31P-MRS study
13. Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome
14. Short-term dichloracetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders
15. Mitochondrial DNA mutations in human disease
16. 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle
17. Population frequencies of inherited neuromuscular diseases - A world survey
18. Familial progressive sensorineural deafness is mainly due to the mtDN A1555G mutation and is enhanced by treatment with aminoglycosides
19. leu(UUR) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in muscle and suggests an approach to therapy
20. Mitochondrial diabetes: A review
21. Phosphorus magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: Results of a 6-month therapy study with coenzyme Q
22. Mitochondrial encephalomyopathy with corticosteroid dependence
23. MELAS: An original case and clinical criteria for diagnosis
24. Leber hereditary optic neuropathy: Mitochondrial mutations and degeneration of the optic nerve
25. Human mitochondrial diseases: Answering questions and questioning answers
26. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees
27. CPEO and carnitine deficiency overlapping in MELAS syndrome
28. Mitochondrial encephalomyopathy (MELAS): Pathological study and successful therapy with coenzyme Q10 and idebenone
29. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
30. Role of adenine nucleotide translocator 1 in mtDNA maintenance
31. Suppression of mutations in mitochondrial DNA by tRNAs imported from the cytoplasm
32. Therapy of complex I deficiency: Peripheral neuropathy during dichloracetate therapy
33. Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects
34. Correction of increased plasma pyruvate and plasma lactate levels using large doses of thiamine in a patient with Kearns-Sayre syndrome
35. Leber hereditary optic neuropathy in Australia
36. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy
37. Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy
38. Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect
39. Prevalence of the base pair 3243 mutation in mitochondrial DNA in young patients with an occipital stroke
40. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
41. The common MELAS mutation A3243G in mitochondrial DNA among patients with an occipital infarct
42. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase6 gene
43. Remission of Leber's hereditary optic neuropathy with idebenone
44. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
45. Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease
46. Deficiency of respiratory chain complex I is a common cause of Leigh disease
47. The epidemiology of Huntington's disease in Northern Ireland
48. Respiratory chain complex III deficiency with pruritis: A novel vitamin responsive clinical feature
49. Clinical spectrum and diagnosis of mitochondrial disorders
50. Assembly of functional proton-translocating ATPase complex in yeast mitochondria with cytoplasmically synthesized subunit 8, a polypeptide normally encoded within the organelle
51. Maternally inherited diabetes and deafness: Prevalence in a hospital diabetic population
52. 31P NMR study
53. Leu(UUR) gene
54. Treatment of Kearns-Sayre syndrome with coenzyme Q10
55. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
56. Mitochondria and degenerative disorders
57. The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan
58. Influence of coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre syndrome and hypoparathyroidism
59. MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: Correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin
60. Mitochondrial genetics '98: Is the bottle-neck cracked?
61. Mitochondria, oxygen free radicals and apoptosis
62. 10 deficiency
63. Mitochondrial DNA mutations and pathogenesis
64. Transfection of mitochondria: Strategy towards a gene therapy of mitochondrial DNA diseases
65. Mitochondrial encephalomyopathies: Gene mutation
66. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy
67. Cytochrome c oxidase deficiency
68. Birth prevalence of mitochondrial respiratory chain defects in children
69. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
70. Diseases caused by nuclear genes affecting mtDNA stability
71. Nuclear expression of mitochondrial genes implicated in human encephalomyopathies
72. Gene shifting: A novel therapy for mitochondrial myopathy
73. Creatine monohydrate increases strength in patients with neuromuscular disease
74. Randomised control trial of creatine monohydrate in patients with mitochondrial cytopathies
75. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids
76. In-vitro modification of mitochondrial function
77. Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
78. Incidence and prevalence of ALS in Ireland, 1995-1997: A population-based study
79. Respiratory chain complex I deficiency
80. Childhood encephalopathies and myopathies: A prospective study in a defined population to assess the frequency of mitochondrial diseases
81. Mitochondrial diseases in mouse and man
82. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
83. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue of age-related variation
84. Mutation in the mitochondrial tRNA(leu) at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies