Chapter 30 Mitochondrial disorders

Supplements to Clinical Neurophysiology

Volumn 57, Issue C, 2004, Pages 304-312

  Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; HUMAN; MUTATION; REVIEW;

DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL DISEASES; MUTATION;

EID: 25144459434     PISSN: 1567424X     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1567-424X(09)70366-6     Document Type: Article

References (45)

1. Agostino A., Valletta L., Chinnery P.F., et al. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 60 (2003) 1354-1356
2. Andreu A.L., Hanna M.G., Reichmann H., et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N. Engl. J. Med. 341 (1999) 1037-1044
3. Andrews R.M., Kubacka I., Chinnery P.F., et al. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23 (1999) 147
4. Boveris A., and Chance B. The mitochondrial generation of hydrogen peroxide. General properties and effect of hyperbaric oxygen. Biochem. J. 134 (1973) 707-716
5. Brown M.D., Sun F., and Wallace D.C. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am. J. Hum. Genet. 60 (1997) 381-387
6. Cann R.L., Stoneking M., and Wilson A.C. Mitochondrial DNA and human evolution. Nature 325 (1987) 31-36
7. Chinnery P.F., Johnson M.A., Wardell T.M., et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann. Neurol. 48 (2000) 188-193
8. DiMauro S., and Schon E.A. Mitochondrial DNA mutations in human disease. Am. J. Med. Genet. 106 (2001) 18-26
9. Elpeleg O., Mandel H., and Saada A. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans. J. Mol. Med. 80 (2002) 389-396
10. Estivill X., Govea N., Barcelo A., et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am. J. Hum. Genet. 62 (1998) 27-35
11. Giles R.E., Blanc H., Cann H.M., et al. Maternal inheritance of human mitochondrial DNA. Proc. Natl. Acad. Sci. USA 77 (1980) 6715-6719
12. Leu(UUR) gene associated with MELAS subgroup of mitochondrial encephalomyopathies. Nature 348 (1990) 651-653
13. Holt I.J., Harding A.E., and Morgan-Hughes J.A. Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature (1988) 717-719
14. Holt I.J., Harding A.E., Petty R.H.K., et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet. 46 (1990) 428-433
15. Hutchin T.P., and Cortopassi G.A. Mitochondrial defects and hearing loss. Cell Mol. Life Sci. 57 (2000) 1927-1937
16. Jenuth J.P., Peterson A.C., Fu K., et al. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat. Genet. 14 (1996) 146-151
17. Lamantea E., Tiranti V., Bordoni A., et al. Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive Progressive External Ophthalmoplegia. Ann. Neurol. 52 (2002) 211-219
18. Lang B.F., Gray M.W., and Burger G. Mitochondrial genome evolution and the origin of eukaryotes. Ann. Rev. Genet. 33 (1999) 351-397
19. Maher E.R., and Eng C. The pressure rises: update on the genetics of phaeochromocytoma. Hum. Mol. Genet. 11 (2002) 2347-2354
20. Mitchell P. Coupling of phosphorylation to electron and hydrogen transfer by a chemiosmotic type of mechanism. Nature 191 (1961) 144-148
21. Moraes C.T., DiMauro S., Zeviani M., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N. Engl. J. Med. 320 (1989) 1293-1299
22. Nishigaki Y., Marti R., Copeland W.C., and Hirano M. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J. Clin. Invest. 111 (2003) 1913-1921
23. Pequignot M.O., Dey R., Zeviani M., Tiranti V., Godinot C., Poyau A., Sue C., Di Mauro S., Abitbol M., and Marsac C. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum. Mutat. 17 (2001) 374-381
24. Ponamarev M.V., Longley M.J., Nguyen D., Kunkel T.A., and Copeland W.C. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. J. Biol. Chem. 277 (2002) 15225-15228
25. Poulton J., Deadman M.E., and Gardiner R.M. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet 1 (1989) 236-1240
26. Prezant T.R., Agapian J.V., Bohlman C.M., et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4 (1993) 289-294
27. Rotig A., Cormier C., Blache S., et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder of infancy. J. Clin. Invest. 86 (1990) 1601-1608
28. Rustin P., and Rotig A. Inborn errors of complex II - unusual human mitochondrial diseases. Biochim. Biophys. Acta 1553 (2002) 117-122
29. Santorelli F.M., Tessa A., D'amati G., et al. The emerging concept of mitochondrial cardiomyopathies. Am. Heart J. 141 1 (2001) E1
30. Schlame M., Towbin J.A., Heerdt P.M., et al. Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann. Neurol. 51 (2002) 634-637
31. Lys mutation. Cell 61 (1990) 931-937
32. Sutovsky P., Moreno R.D., Ramalho-Santos J., et al. Ubiquitinated sperm mitochondria, selective proteolysis, and the regulation of mitochondrial inheritance in mammalian embryos. Biol. Reprod. 63 (2000) 582-590
33. Tatuch Y., Christodoulou J., Feigenbaum A., et al. Hetero-plasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am. J. Hum. Genet. 50 (1992) 852-858
34. Thorburn D.R., and Dahl H.H. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am. J. Med. Genet. 106 (2001) 102-114
35. Thyagarajan D., Shanske S., Vazquez-Memije M., et al. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann. Neurol. 38 (1995) 468-472
36. Ser(UCN) gene. Hum. Mol. Genet. 4 (1995) 1421-1427
37. Torroni A., Lott M.T., Cabell M.F., et al. mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am. J. Hum. Genet. 55 (1994) 760-776
38. Triepels R.H., Van Den Heuvel L.P., Trijbels J.M., and Smeitink J.A. Respiratory chain complex I deficiency. Am. J. Med. Genet. 106 (2001) 37-45
39. Valianpour F., Wanders R.J., Overmars H., et al. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J. Pediatr. 141 (2002) 729-733
40. Van Maldergem L., Trijbels F., DiMauro S., Sindelar P.J., Musumeci O., Janssen A., Delberghe X., Martin J.J., and Gillerot Y. Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann. Neurol. 52 (2002) 750-754
41. Visapaa I., Fellman V., Vesa J., Dasvarma A., Hutton J.L., Kumar V., Payne G.S., Makarow M., Van Coster R., Taylor R.W., Turnbull D.M., Suomalainen A., and Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCSIL. Am. J. Hum. Genet. 71 (2002) 863-876
42. Wallace D.C. Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance. Somat. Cell Mol. Genet. 12 (1986) 41-49
43. Wallace D.C., Zheng X., Lott M., et al. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55 (1988) 601-610
44. Wallace D.C., Brown M.D., and Lott M.T. Mitochondrial DNA variation in human evolution and disease. Gene 238 (1999) 211-230
45. Zeviani M., Moraes C.T., DiMauro S., et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38 (1988) 1339-1346