COMPLEX I DISORDERS: CAUSES, MECHANISMS, AND DEVELOPMENT OF TREATMENT STRATEGIES AT THE CELLULAR LEVEL

被引：44

作者：

Valsecchi, Federica ^{[1
,2
]}

Koopman, Werner J. H. ^{[1
]}

Manjeri, Ganesh R. ^{[1
,2
]}

Rodenburg, Richard J. ^{[2
]}

Smeitink, Jan A. M. ^{[2
]}

Willems, Peter H. G. M. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Nijmegen Ctr Mol Life Sci, Med Ctr, Dept Biochem, NL-6500 HB Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Nijmegen Ctr Mitochondrial Disorders, Med Ctr, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

来源：

DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS | 2010年 / 16卷 / 02期

关键词：

reactive oxygen species; mitochondrial; membrane potential; Ca2+ handling; antioxidants; TARGETED PLASTOQUINONE DERIVATIVES; INTERRUPT EXECUTION; SUPEROXIDE-PRODUCTION; ATP PRODUCTION; HUMAN NADH; MITOCHONDRIA; UBIQUINONE; MUTATIONS; TOOLS; GENE;

D O I：

10.1002/ddrr.107

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mitochondrial oxidative phosphorylation (OXPHOS) represents the final step in the conversion of nutrients into cellular energy. Genetic defects in the OXPHOS system have an incidence between 1:5,000 and 1:10,000 live births. Inherited isolated deficiency of the first complex (Cl) of this system, a multisubunit assembly of 45 different proteins, occurs most frequently and originates from mutations in either the nuclear DNA, encoding 38 structural subunits and several assembly factors, or the mitochondrial DNA, encoding 7 structural subunits. The deficiency is associated with devastating multisystemic disorders, often affecting the brain, with onset in early childhood. There are currently no rational treatment strategies. Here, we present an overview of the genetic origins and cellular consequences of this deficiency and discuss how these insights might aid future development of treatment strategies. (C) 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:175-182.

引用

页码：175 / 182

页数：8

共 68 条

[1] Mitochondria-targeted plastoquinone derivatives as tools to interrupt execution of the aging program. 3. Inhibitory effect of SkQ1 on tumor development from p53-deficient cells [J].

Agapova, L. S. ;

Chernyak, B. V. ;

Domnina, L. V. ;

Dugina, V. B. ;

Efimenko, A. Yu. ;

Fetisova, E. K. ;

Ivanova, O. Yu. ;

Kalinina, N. I. ;

Khromova, N. V. ;

Kopnin, B. P. ;

Kopnin, P. B. ;

Korotetskaya, M. V. ;

Lichinitser, M. R. ;

Lukashev, A. L. ;

Pletjushkina, O. Yu. ;

Popova, E. N. ;

Skulachev, M. V. ;

Shagieva, G. S. ;

Stepanova, E. V. ;

Titova, E. V. ;

Tkachuk, V. A. ;

Vasiliev, J. M. ;

Skulachev, V. P. .

BIOCHEMISTRY-MOSCOW, 2008, 73 (12) :1300-1316

[2] Mitochondria-targeted plastoquinone derivatives as tools to interrupt execution of the aging program. 1. Cationic plastoquinone derivatives: Synthesis and in vitro studies [J].

Antonenko, Y. N. ;

Avetisyan, A. V. ;

Bakeeva, L. E. ;

Chernyak, B. V. ;

Chertkov, V. A. ;

Domnina, L. V. ;

Ivanova, O. Yu. ;

Izyumov, D. S. ;

Khailova, L. S. ;

Klishin, S. S. ;

Korshunova, G. A. ;

Lyamzaev, K. G. ;

Muntyan, M. S. ;

Nepryakhina, O. K. ;

Pashkovskaya, A. A. ;

Pletjushkina, O. Yu. ;

Pustovidko, A. V. ;

Roginsky, V. A. ;

Rokitskaya, T. I. ;

Ruuge, E. K. ;

Saprunova, V. B. ;

Severina, I. I. ;

Simonyan, R. A. ;

Skulachev, I. V. ;

Skulachev, M. V. ;

Sumbatyan, N. V. ;

Sviryaeva, I. V. ;

Tashlitsky, V. N. ;

Vassiliev, J. M. ;

Vyssokikh, M. Yu. ;

Yaguzhinsky, L. S. ;

Zamyatnin, A. A., Jr. ;

Skulachev, V. P. .

BIOCHEMISTRY-MOSCOW, 2008, 73 (12) :1273-1287

[3] The on-off switches of the mitochondrial uncoupling proteins [J].

Azzu, Vian ;

Brand, Martin D. .

TRENDS IN BIOCHEMICAL SCIENCES, 2010, 35 (05) :298-307

[4] Mitochondria-targeted plastoquinone derivatives as tools to interrupt execution of the aging program. 2. Treatment of some ROS- and Age-related diseases (heart arrhythmia, heart infarctions, kidney ischemia, and stroke) [J].

Bakeeva, L. E. ;

Barskov, I. V. ;

Egorov, M. V. ;

Isaev, N. K. ;

Kapelko, V. I. ;

Kazachenko, A. V. ;

Kirpatovsky, V. I. ;

Kozlovsky, S. V. ;

Lakomkin, V. L. ;

Levina, S. B. ;

Pisarenko, O. I. ;

Plotnikov, E. Y. ;

Saprunova, V. B. ;

Serebryakova, L. I. ;

Skulachev, M. V. ;

Stelmashook, E. V. ;

Studneva, I. M. ;

Tskitishvili, O. V. ;

Vasilyeva, A. K. ;

Victorov, I. V. ;

Zorov, D. B. ;

Skulachev, V. P. .

BIOCHEMISTRY-MOSCOW, 2008, 73 (12) :1288-1299

[5] Ultrastructure of the mitochondrion and its bearing on function and bioenergetics [J].

Benard, Giovanni ;

Rossignol, Rodrigue .

ANTIOXIDANTS & REDOX SIGNALING, 2008, 10 (08) :1313-1342

[6] Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome [J].

Bénit, P ;

Slama, A ;

Cartault, F ;

Giurgea, I ;

Chretien, D ;

Lebon, S ;

Marsac, C ;

Munnich, A ;

Rötig, A ;

Rustin, P .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (01) :14-17

[7] Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophlic cardiomyopathy and encephalopathy [J].

Bénit, P ;

Beugnot, R ;

Chretien, D ;

Giurgea, I ;

De Lonlay-Debeney, P ;

Issartel, JP ;

Corral-Debrinski, M ;

Kerscher, S ;

Rustin, P ;

Rötig, A ;

Munnich, A .

HUMAN MUTATION, 2003, 21 (06) :582-586

[8] Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency [J].

Bénit, P ;

Chretien, D ;

Kadhom, N ;

de Lonlay-Debeney, P ;

Cormier-Daire, V ;

Cabral, A ;

Peudenier, S ;

Rustin, P ;

Munnich, A ;

Rötig, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1344-1352

[9] Th1 or th2: How an appropriate T helper response can be made [J].

Bergmann, C ;

van Hemmen, JL ;

Segel, LA .

BULLETIN OF MATHEMATICAL BIOLOGY, 2001, 63 (03) :405-430

[10] A dynamic machinery for import of mitochondrial precursor proteins [J].

Bohnert, Maria ;

Pfanner, Nikolaus ;

van der Laan, Martin .

FEBS LETTERS, 2007, 581 (15) :2802-2810

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