Mitochondrial DNA in focal dystonia: A cybrid analysis

Annals of Neurology

Volumn 44, Issue 2, 1998, Pages 258-261

  Tabrizi, S J ^a   Cooper, J M ^a   Schapira, A H V ^a,b  

^a ROYAL FREE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSTONIA; GENE MUTATION; GENOME; HUMAN; HUMAN CELL; PATHOPHYSIOLOGY; PRIORITY JOURNAL; THROMBOCYTE;

BLOOD PLATELETS; CELL FUSION; CELLS, CULTURED; CITRATE (SI)-SYNTHASE; DNA, MITOCHONDRIAL; DYSTONIA; ELECTRON TRANSPORT; HUMANS; NAD(P)H DEHYDROGENASE (QUINONE); REFERENCE VALUES; STATISTICS, NONPARAMETRIC;

EID: 0031857366     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410440218     Document Type: Article

References (16)

1. Fletcher NA, Harding AE, Marsden CD. A genetic study of dystonia in the United Kingdom. Brain 1990;113:379-395
2. Ozelius LJ, Hewett JW, Page CE, et al. The early onset torsion dystonia gene (DYT1) encodes an ATP binding protein. Nat Genet 1997;17:40-48
3. Ozelius L, Kramer PL, Moskowitz C. Human gene for torsion dystonia localised in chromosome 9q32-34. Neuroscience 1989;2:1427-1434
4. Warner TT, Fletcher NA, Davis MB, et al. Linkage analysis in British and French families with idiopathic torsion dystonia. Brain 1993;116:739-748
5. Leube B, Rudnicki D, Ratzlaff T, et al. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 1996;5:1673-1677
6. Benecke R, Strümper P, Weiss H. Electron transfer complex I defect in idiopathic dystonia. Ann Neurol 1992;32:683-686
7. Schapira AHV, Warner T, Gash MT, et al. Complex I function in familial and sporadic dystonia. Ann Neurol 1997;41:556-559
8. Dunbar DR, Moonie PA, Zeviani M, Holt IJ. Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum Mol Genet 1996;5:123-129
9. Chomyn A, Meola G, Bresolin N, et al. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy - patient mitochondria. Mol Cell Biol 1991;11:2236-2244
10. Hayashi J-I, Ohta S, Kikuchi A, et al. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 1991;88:10614-10618
11. Bodnar AG, Cooper JM, Holt IJ, et al. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet 1993;53:663-669
12. 0 transformants. Hum Mol Genet 1995;4:2017-2023
13. Swerdlow RH, Parks JK, Miller SW, et al. Origin and functional consequences of the complex I defect in Parkinson's disease. Ann Neurol 1996;40:663-671
14. Davis RE, Miller S, Herrnstadt C, et al. Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. Proc Natl Acad Sci USA 1997;94:4526-4531
15. Krige D, Carroll MT, Cooper JM, et al. Platelet mitochondrial function in Parkinson's disease. Ann Neurol 1992;32:782-788
16. Gu M, Cooper JM, Taanman JW, Schapira AHV. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease. Ann Neurol 1998;44:177-186