Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24

Neurology

Volumn 53, Issue 6, 1999, Pages 1265-1271

  Li, Fang Yuan ^a   Tariq, M ^b   Croxen, R ^c   Morten, K ^c   Squier, W ^d   Newsom Davis, J ^c   Beeson, D ^c   Larsson, C ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b PAKISTAN INSTITUTE OF MEDICAL SCIENCES   (Pakistan)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^d RADCLIFFE INFIRMARY   (United Kingdom)

Author keywords

Chromosome 10; Linkage analysis; Mitochondrial DNA; Progressive external ophthalmoplegia

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 10Q; CLINICAL ARTICLE; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE LOCATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MALE; MUSCLE BIOPSY; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0032834677     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.6.1265     Document Type: Article

References (38)

1. Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992;90:61-66.
2. Kaukonen JA, Amati P, Soumalainen A, et al. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 1996;58:763-769.
3. Suomalainen A, Kaukonen J, Amati P, et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995;9:146-151.
4. Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996;46:1329-1334.
5. Suomalainen A, Majander A, Wallin M, et al. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 1997;48:1244-1253.
6. Zeviani M, Tiranti V, Piantadosi C. Mitochondrial disorders. Medicine (Baltimore) 1998;77:59-72.
7. Li FY, Huang Y, Zhang LS, et al. The partial deletion of mitochondrial DNA in neuromuscular diseases. Chin J Med Genet 1994;11:193-199.
8. Zhang LS, Huang Y, Li FY, et al. Mitochondrial DNA mutation in Leber's hereditary optic neuropathy in China. Chung Hua I Hsueh Tsa Chih (Taipei) 1994;74:349-351, 390.
9. Suomalainen A. Mitochondrial DNA and disease. Ann Med 1997;29:235-246.
10. Wallace DC. Mitochondrial genetics: a paradigm for aging and degenerative diseases? Science 1992;256:628-632.
11. Neupert W. Protein import into mitochondria. Annu Rev Biochem 1997;66:863-917.
12. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989;339:309-311.
13. Morten K. Mitochondrial disorders mutation screening. In: Applegarth D, Dimmick JE, Hall J, eds. Organelle diseases. 1997:351-364.
14. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993;53:252-263.
15. Schaffer AA. Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 1996;46:226-235.
16. Carrozzo R, Hirano M, Fromenty B, et al. Multiple mtDNA deletion features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology 1998;50:99-106.
17. Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology 1997;49:1166-1168.
18. Melberg A, Arnell H, Dahl N, et al. Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve 1996;19:1561-1569.
19. Oldfors A, Moslemi AR, Fyhr IM, Holme E, Larsson NG, Lindberg C. Mitochondrial DNA deletions in muscle fibers in inclusion myositis. J Neuropathol Exp Neurol 1995;54:581-587.
20. Servidei S, Zeviani M, Manfredi G, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991;41:1053-1059.
21. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-1430.
22. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719.
23. Sherratt EJ, Thomas AW, Alcolado JC. Mitochondrial DNA defects: a widening clinical spectrum of disorders. Clin Sci (Colch) 1997;92:225-235.
24. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-465.
25. Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997;16:352-357.
26. Ling F, Makishima F, Morishima N, Shibata T. A nuclear mutation defective in mitochondrial recombination in yeast. EMBO J 1995;14:4090-4101.
27. Larsson NG, Wang J, Wilhelmsson H, et al. Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet 1998;18:231-236.
28. Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
29. Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93:973-983.
30. Zhu Z, Yao J, Johns T, et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998;20:337-343.
31. Loeffen J, Smeitink J, Triepels R, et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 1998;63:1598-1608.
32. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-692.
33. Schuelke M, Smeitink J, Mariman E, et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 1999;21:260-261.
34. Haycock JW, Falkous G, Mantle D. Differential susceptibility of skeletal muscle proteins to free radical-induced oxidative damage in vitro. In: Reznick AZ, Packer L, Sen CK, Holloszy JO, Jackson MJ, eds. Oxidative stress in skeletal muscle. Basel: Birkhäuser Verlag, 1998:157-176.
35. Chen X, Prosser R, Simonetti S, Sadlock J, Jagiello G, Schon EA. Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet 1995;57:239-247.
36. Poulton J, Sewry C, Potter CG, et al. Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inher Metab Dis 1995;18:4-20.
37. Bourgeron T, Chretien D, Rotig A, Munnich A, Rustin P. Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures. J Biol Chem 1993; 268:19369-19376.
38. Moslemi AR, Melberg A, Holme E, Oldfors A. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Ann Neurol 1996;40:707-713.