Mitochondrial disorders

Current Opinion in Neurology

Volumn 14, Issue 5, 2001, Pages 553-560

  Zeviani, Massimo ^a   Klopstock, Thomas ^a,b  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIDECARENONE;

ANIMAL MODEL; DIET THERAPY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; GENE THERAPY; GENETIC ANALYSIS; MELAS SYNDROME; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; OXIDATIVE PHOSPHORYLATION; PATHOGENESIS; POINT MUTATION; RESPIRATORY CHAIN; REVIEW; SEQUENCE ANALYSIS;

ANIMALS; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL DISEASES;

EID: 0034788307     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200110000-00002     Document Type: Review

References (94)

1. The genetics and pathology of oxidative phosphorylation
2. The epidemiology of pathogenic mitochondrial DNA mutations
3. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
4. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients
5. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
6. A novel mitochondrial 12S rRNA point mutation in parkinsonism, deafness, and neuropathy
7. A novel mutation in the mitochondrial tRNATyr gene associated with exercise intolerance
8. A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNAGln anticodon loop
9. Ser(UCN) gene in a family with non-syndremic sensorineural hearing impairment
10. A new rntDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency
11. Maternally inherited deafness associated with a T1095C mutation in the mDNA
12. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
13. Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy
14. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication
15. Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication
16. Point mutations of the mtDNA control region in normal and neurodegenerative human brains
17. Leu(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
18. Lys with the MERRF encephalomyopathy pathogenic mutation
19. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
20. Leu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
21. lle
22. Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a
23. Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene
24. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
25. A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase
26. Single-fiber PCR in MELAS(3243) patients: Correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype
27. Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism
28. Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies
29. New insights into the metabolic consequences of large-scale mtDNA deletions: A quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle
30. 'MELAS' (A3243G) mutation of mitochondrial DNA: A study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data
31. Increased risk of stroke in patients with the A12308G polymorphism in mitochondria
32. No correlation between muscle A3243G mutation load and mitochondrial function in vivo
33. Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo
34. Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency
35. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
36. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
37. 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
38. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene
39. A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
40. Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome
41. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
42. Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
43. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
44. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
45. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome
46. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene
47. Mutations in SDHC, a mitochondrial complex II gene, in hereditary paraganglioma
48. Mutations in SDHC cause autosomal dominant paraganglioma, type 3
49. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
50. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
51. Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
52. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
53. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
54. Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions
55. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
56. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
57. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency
58. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients
59. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16
60. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
61. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
62. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
63. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
64. A mutation in the human heme A: Farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
65. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
66. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
67. Human deafness dystonia syndrome is a mitochondrial disease
68. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome
69. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
70. Human ABC7 transporter: Gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation
71. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae
72. Frataxin activates mitochondrial energy conversion and oxidative phosphorylation
73. Oxidative stress in patients with Friedreich ataxia
74. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
75. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
76. Role of adenine nucleotide translocator 1 in mtDNA maintenance
77. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
78. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
79. Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
80. Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states
81. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
82. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression
83. Increased in vivo apoptosis in cells lacking mitochondrial DNA gene expression
84. Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy
85. Mouse models of mitochondrial disease, oxidative stress, and senescence
86. Chronic systemic pesticide exposure reproduce features of Parkinson's disease
87. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
88. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
89. Suppression of mutations in mitochondrial DNA by tRNAs imported from the cytoplasm
90. In-vitro genetic modification of mitochondrial function
91. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
92. Creatine monohydrate increases strength in patients with neuromuscular disease
93. A placebo-controlled crossover trial of creatine in mitochondrial diseases
94. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study