Mitochondrial disorders

被引:21
作者
Schapira, AHV
机构
[1] Royal Free & Univ Coll, Sch Med, Dept Clin Neurosci, London NW3 2PF, England
[2] UCL, Inst Neurol, London, England
关键词
D O I
10.1097/00019052-200010000-00004
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The rate of advance of our understanding of mitochondrial pathology continues to accelerate. Trends in genotype-phenotype correlations in mitochondrial DNA mutations continue to be developed; the latest of these is the association of exercise intolerance with cytochrome b mutations and onset in infancy of multisystem disorders associated with cytochrome oxidase assembly defects. New models for mitochondrial disease are being developed. Drugs, toxins and deficiency of nuclear encoded proteins that are targeted at mitochondria are now recognized as important causes of secondary mitochondrial respiratory chain deficiency, Curr Opin Neurol 13:527- 532. (C) 2000 Lippincott Williams & Wilkins.
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收藏
页码:527 / 532
页数:6
相关论文
共 62 条
[41]   ELECTRON-TRANSFER PROPERTIES OF NADH - UBIQUINONE REDUCTASE IN THE ND1/3460 AND THE ND4/11778 MUTATIONS OF THE LEBER HEREDITARY OPTIC NEURORETINOPATHY (LHON) [J].
MAJANDER, A ;
HUOPONEN, K ;
SAVONTAUS, ML ;
NIKOSKELAINEN, E ;
WIKSTROM, M .
FEBS LETTERS, 1991, 292 (1-2) :289-292
[42]   The fate of human sperm-derived mtDNA in somatic cells [J].
Manfredi, G ;
Thyagarajan, D ;
Papadopoulou, LC ;
Pallotti, F ;
Schon, EA .
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) :953-960
[43]   A NEW MUTATION ASSOCIATED WITH MELAS IS LOCATED IN A MITOCHONDRIAL-DNA POLYPEPTIDE-CODING GENE [J].
MANFREDI, G ;
SCHON, EA ;
MORAES, CT ;
BONILLA, E ;
BERRY, GT ;
SLADKY, JT ;
DIMAURO, S .
NEUROMUSCULAR DISORDERS, 1995, 5 (05) :391-398
[44]   Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease [J].
Marchington, DR ;
Barlow, D ;
Poulton, J .
NATURE MEDICINE, 1999, 5 (08) :957-960
[45]   Mitochondrial disease in superoxide dismutase 2 mutant mice [J].
Melov, S ;
Coskun, P ;
Patel, M ;
Tuinstra, R ;
Cottrell, B ;
Jun, AS ;
Zastawny, TH ;
Dizdaroglu, M ;
Goodman, SI ;
Huang, TT ;
Miziorko, H ;
Epstein, CJ ;
Wallace, DC .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (03) :846-851
[46]   Visceral abdominal-fat accumulation associated with use of indinavir [J].
Miller, KD ;
Jones, E ;
Yanovski, JA ;
Shankar, R ;
Feuerstein, I ;
Falloon, J .
LANCET, 1998, 351 (9106) :871-875
[47]   HIV nucleoside analogues: new adverse effects on mitochondria? [J].
Morris, AAM ;
Carr, A .
LANCET, 1999, 354 (9184) :1046-1047
[48]  
Papadopoulou LC, 1999, NAT GENET, V23, P333
[49]   Frataxin gene of Friedreich's ataxia is targeted to mitochondria [J].
Priller, J ;
Scherzer, CR ;
Faber, PW ;
MacDonald, ME ;
Young, AB .
ANNALS OF NEUROLOGY, 1997, 42 (02) :265-269
[50]   A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy [J].
Rahman, S ;
Taanman, JW ;
Cooper, JM ;
Nelson, I ;
Hargreaves, I ;
Meunier, B ;
Hanna, MG ;
García, JJ ;
Capaldi, RA ;
Lake, BD ;
Leonard, JV ;
Schapira, AHV .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) :1030-1039