The pathophysiology of mitochondrial biogenesis:: Towards four decades of mitochondrial DNA research

被引:15
作者
Fernández-Moreno, MA [1 ]
Bornstein, B [1 ]
Petit, N [1 ]
Garesse, R [1 ]
机构
[1] Univ Autonoma Madrid, Fac Med, CSIC, Inst Invest Biomed Alberto Sols,Dept Bioquim, E-28029 Madrid, Spain
关键词
D O I
10.1006/mgme.2000.3083
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Mitochondria are with very few exceptions ubiquitous organelles in eukaryotic cells where they are essential for cell life and death. Mitochondria play a central role not only in a variety of metabolic pathways including the supply of the bulk of cellular ATP through oxidative phosphorylation (OXPHOS), but also in complex processes such as development, apoptosis, and aging. Mitochondria contain their own genome that is replicated and expressed within the organelle. It encodes 13 polypeptides all of them components of the OXPHOS system, and thus, the integrity of the mitochondrial DNA (mtDNA) is critical for cellular energy supply. In the past 12 years more than 50 point mutations and around 100 rearrangements in the mtDNA have been associated with human diseases. Also in recent years, several mutations in nuclear genes that encode structural or regulatory factors of the OXPHOS system or the mtDNA metabolism have been described. The development of increasingly powerful techniques and the use of cellular and animal models are opening new avenues in the study of mitochondrial medicine. The detailed molecular characterization of the effects produced by different mutations that cause mitochondrial cytopathies will be critical for designing rational therapeutic strategies for this group of devastating diseases. (C) 2000 Academic Press.
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收藏
页码:481 / 495
页数:15
相关论文
共 109 条
[71]   MITOCHONDRIAL RIBOSOMAL-RNA MUTATION ASSOCIATED WITH BOTH ANTIBIOTIC-INDUCED AND NON-SYNDROMIC DEAFNESS [J].
PREZANT, TR ;
AGAPIAN, JV ;
BOHLMAN, MC ;
BU, XD ;
OZTAS, S ;
QIU, WQ ;
ARNOS, KS ;
CORTOPASSI, GA ;
JABER, L ;
ROTTER, JI ;
SHOHAT, M ;
FISCHELGHODSIAN, N .
NATURE GENETICS, 1993, 4 (03) :289-294
[72]   Recent advances in the molecular pathogenesis of Friedreich ataxia [J].
Puccio, H ;
Koenig, M .
HUMAN MOLECULAR GENETICS, 2000, 9 (06) :887-892
[73]   SPECTRUM OF MITOCHONDRIAL-DNA REARRANGEMENTS IN THE PEARSON MARROW-PANCREAS SYNDROME [J].
ROTIG, A ;
BOURGERON, T ;
CHRETIEN, D ;
RUSTIN, P ;
MUNNICH, A .
HUMAN MOLECULAR GENETICS, 1995, 4 (08) :1327-1330
[74]   Nuclear control of respiratory chain expression in mammalian cells [J].
Scarpulla, RC .
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES, 1997, 29 (02) :109-119
[75]   Mitochondrial dysfunction in neurodegenerative disorders [J].
Schapira, AHV .
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1998, 1366 (1-2) :225-233
[76]   Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia [J].
Schapira, AHV .
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1999, 1410 (02) :159-170
[77]  
SCHOFFNER JM, 1995, METABOLIC MOL BASES, V1, P1535
[78]   Mitochondrial DNA mutations and pathogenesis [J].
Schon, EA ;
Bonilla, E ;
DiMauro, S .
JOURNAL OF BIOENERGETICS AND BIOMEMBRANES, 1997, 29 (02) :131-149
[79]   DISTRIBUTION OF WILD-TYPE AND COMMON DELETION FORMS OF MTDNA IN NORMAL AND RESPIRATION-DEFICIENT MUSCLE-FIBERS FROM PATIENTS WITH MITOCHONDRIAL MYOPATHY [J].
SCIACCO, M ;
BONILLA, E ;
SCHON, EA ;
DIMAURO, S ;
MORAES, CT .
HUMAN MOLECULAR GENETICS, 1994, 3 (01) :13-19
[80]  
SERVIDEI S, 1999, NEUROMUSCULAR DISORD, V9, P9