Mitochondrial DNA mutations in human disease

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 106, Issue 1, 2001, Pages 18-26

  DiMauro, Salvatore ^a   Schon, Eric A ^b  

^a Columbia University ^*  (United States)

^b NONE

Author keywords

Heteroplasmy; Mitochondrial cytopathies; Mitochondrial DNA mutations; Mitochondrial protein synthesis; Mitochondrial protein coding genes; Pathogenicity

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INHERITANCE; NONHUMAN; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS;

ALLELES; ANIMALS; DNA, MITOCHONDRIAL; FEMALE; GENETIC COUNSELING; HUMANS; MALE; MICE; MITOCHONDRIAL DISEASES; MITOSIS; MODELS, GENETIC; MOTHERS; MUTATION; POINT MUTATION;

EID: 0034951327     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1392     Document Type: Article

References (63)

1. Sequence and organization of the human mitochondrial genome
2. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
3. Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
4. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
5. A case of mitochondrial myopathy, lactic acidosis and complex I deficiency
6. Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA
7. New morphological approaches to the study of mitochondrial encephalomyopathies
8. Kearns-Sayre syndrome (KSS): Patterns of expression of subunits of the respiratory chain in the cerebellum
9. Relaxed replication of mtDNA: A model with implications for the expression of disease
10. Epidemiology and treatment of mitochondrial disorders
11. Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo
12. Epidemiology of pathogenic mitochondrial DNA mutations
13. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome
14. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
15. Exercise intolerance and the mitochondrial respiratory chain
16. Mutations in mtDNA: Are we scraping the bottom of the barrel?
17. Mitochondria and heart disease
18. Mitochondrial DNA and diseases of the nervous system: The spectrum
19. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu (UUR) A3243G mutation in a MELAS pedigree
20. Rapid examination of muscle tissue: An improved trichome stain method for fresh-frozen biopsy sections
21. A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy
22. A new mitochondrial DNA mutation (A3288G) in the TRNALeu(UUR) gene associated with familial myopathy
23. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
24. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
25. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
26. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA canting a deletion into zygotes
27. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II
28. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
29. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
30. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
31. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mtDNA
32. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
33. Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
34. A novel mitochondrial tRNAPhe mutation inhibiting anticodon stem formation associated with a muscle disease
35. Termination of transcription in human mitochondria: Identification and purification of a DNA binding protein factor that promotes termination
36. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
37. Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR
38. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
39. A mitochondrial tRNA anticodon swap associated with a muscle disease
40. Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy
41. Intramitochondrial fibers with DNA characteristics
42. Mitochondrial myopathy with tRNALeu(UUR) mutation and complex I deficiency responsive to riboflavin
43. Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria
44. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243
45. Mitochondrial DNA mutations and pathogenesis
46. Mitochondrial encephalomyopathies: Gene mutation
47. 1H MRSI, MRI and neuropsychological testing
48. A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNATrp gene
49. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
50. Neuropathologic aspects of cytochrome c oxidase deficiency
51. Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system
52. Heteroplasmic mtDNA mutation (TÆG) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
53. Inheritance of mtDNA mutations: The mitochondrial bottleneck, genetic counselling and prenatal diagnosis
54. A new mitochondrial tRNAMet gene mutation in a patient with dystrophic muscle and exercise intolerance
55. Mouse models for mitochondrial disease
56. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
57. Mitochondrial DNA variation in human evolution and disease
58. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
59. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
60. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation
61. Deletions of mitochondrial DNA in Kearns-Sayre syndrome