Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

被引:150
作者
Leonard, JV
Schapira, AHV
机构
[1] Royal Free & Univ Coll Med Sch, Univ Dept Clin Neurosci, London NW3 2PF, England
[2] UCL, Neurol Inst, London, England
[3] Inst Child Hlth, Biochem Endocrine & Metab Unit, London, England
基金
英国医学研究理事会; 英国惠康基金;
关键词
D O I
10.1016/S0140-6736(99)05226-5
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The first part of this review (Lancet 2000; 355: 299) covered primary disorders of mitochondrial DNA (mtDNA). This section will cover nuclear-encoded defects of the oxidative phosphorylation (OXPHOS) system, including mtDNA mutations that are secondary to nuclear gene mutations and nuclear gene defects responsible for secondary OXPHOS deficiency (panel). The latter group of diseases are predominantly neurodegenerative. The mitochondrion's role in apoptosis and its contribution to the pathogenesis of neurodegenerative diseases are also covered.
引用
收藏
页码:389 / 394
页数:6
相关论文
共 66 条
  • [1] Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
    Adams, PL
    Lightowlers, RN
    Turnbull, DM
    [J]. ANNALS OF NEUROLOGY, 1997, 41 (02) : 268 - 270
  • [2] Complex I defect in muscle from patients with Huntington's disease
    Arenas, J
    Campos, Y
    Ribacoba, R
    Martín, MA
    Rubio, JC
    Ablanedo, P
    Cabello, A
    [J]. ANNALS OF NEUROLOGY, 1998, 43 (03) : 397 - 400
  • [3] DOES IMPAIRMENT OF ENERGY-METABOLISM RESULT IN EXCITOTOXIC NEURONAL DEATH IN NEURODEGENERATIVE ILLNESSES
    BEAL, MF
    [J]. ANNALS OF NEUROLOGY, 1992, 31 (02) : 119 - 130
  • [4] Mitochondrial involvement in Alzheimer's disease
    Bonilla, E
    Tanji, K
    Hirano, M
    Vu, TH
    DiMauro, S
    Schon, EA
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1999, 1410 (02): : 171 - 182
  • [5] NEUROPATHOLOGICAL CHANGES OF THE NUCLEUS ACCUMBENS IN HUNTINGTONS-CHOREA
    BOTS, GTAM
    BRUYN, GW
    [J]. ACTA NEUROPATHOLOGICA, 1981, 55 (01) : 21 - 22
  • [6] MUTATION OF A NUCLEAR SUCCINATE-DEHYDROGENASE GENE RESULTS IN MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY
    BOURGERON, T
    RUSTIN, P
    CHRETIEN, D
    BIRCHMACHIN, M
    BOURGEOIS, M
    VIEGASPEQUIGNOT, E
    MUNNICH, A
    ROTIG, A
    [J]. NATURE GENETICS, 1995, 11 (02) : 144 - 149
  • [7] Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
    Bradley, JL
    Blake, JC
    Chamberlain, S
    Thomas, PK
    Cooper, JM
    Schapira, AHV
    [J]. HUMAN MOLECULAR GENETICS, 2000, 9 (02) : 275 - 282
  • [8] A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60
    Briones, P
    Vilaseca, MA
    Ribes, A
    Vernet, A
    Lluch, M
    Cusi, V
    Huckriede, A
    Agsteribbe, E
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (04) : 569 - 577
  • [9] Oxidative damage and metabolic dysfunction in Huntington's disease: Selective vulnerability of the basal ganglia
    Browne, SE
    Bowling, AC
    MacGarvey, U
    Baik, MJ
    Berger, SC
    Muqit, MMK
    Bird, ED
    Beal, MF
    [J]. ANNALS OF NEUROLOGY, 1997, 41 (05) : 646 - 653
  • [10] Mitochondrial control of apoptosis:: the role of cytochrome c
    Cai, JY
    Yang, J
    Jones, DP
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1998, 1366 (1-2): : 139 - 149