Mitochondrial medicine - recent advances

被引:46
作者
Graff, C
Clayton, DA
Larsson, NG
机构
[1] Karolinska Hosp, Ctr Mol Med, Dept Mol Med, S-17176 Stockholm, Sweden
[2] Howard Hughes Med Inst, Chevy Chase, MD USA
关键词
ageing; diabetes mellitus; genetics; mitochondrial diseases; neurodegenerative diseases; radical oxygen species;
D O I
10.1046/j.1365-2796.1999.00514.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the main part of cellular energy in the form of ATP. Mitochondrial DNA (mtDNA) encodes essential subunits of the respiratory chain and is thus critical for maintaining cellular energy production. The first pathogenic mtDNA mutations were reported in 1988, and today more than 50 disease-causing mtDNA mutations have been identified. In addition, mtDNA mutations have been implicated in ageing and in common disorders such as diabetes mellitus, heart failure and Parkinson's disease, This review will summarize recent advances in the rapidly expanding field of mitochondrial medicine.
引用
收藏
页码:11 / 23
页数:13
相关论文
共 109 条
[41]   A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes [J].
Ishii, N ;
Fujii, M ;
Hartman, PS ;
Tsuda, M ;
Yasuda, K ;
Senoo-Matsuda, N ;
Yanase, S ;
Ayusawa, D ;
Suzuki, K .
NATURE, 1998, 394 (6694) :694-697
[42]   Nuclear-recessive mutations of factors involved in mitochondrial translation are responsible for age-related respiration deficiency of human skin fibroblasts [J].
Isobe, K ;
Ito, S ;
Hosaka, H ;
Iwamura, Y ;
Kondo, H ;
Kagawa, Y ;
Hayashi, JI .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (08) :4601-4606
[43]   Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA [J].
Jenuth, JP ;
Peterson, AC ;
Fu, K ;
Shoubridge, EA .
NATURE GENETICS, 1996, 14 (02) :146-151
[44]  
Kaukonen JA, 1996, AM J HUM GENET, V58, P763
[45]   An age-associated correlation between cellular bioenergy decline and mtDNA rearrangements in human skeletal muscle [J].
Kopsidas, G ;
Kovalenko, SA ;
Kelso, JM ;
Linnane, AW .
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 1998, 421 (01) :27-36
[46]   Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin [J].
Koutnikova, H ;
Campuzano, V ;
Foury, F ;
Dolle, P ;
Cazzalini, O ;
Koenig, M .
NATURE GENETICS, 1997, 16 (04) :345-351
[47]   Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cells [J].
Laderman, KA ;
Penny, JR ;
Mazzucchelli, F ;
Bresolin, N ;
Scarlato, G ;
Attardi, G .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (27) :15891-15897
[48]   An ancestral mitochondrial DNA resembling a eubacterial genome in miniature [J].
Lang, BF ;
Burger, G ;
OKelly, CJ ;
Cedergren, R ;
Golding, GB ;
Lemieux, C ;
Sankoff, D ;
Turmel, M ;
Gray, MW .
NATURE, 1997, 387 (6632) :493-497
[49]   CHRONIC PARKINSONISM IN HUMANS DUE TO A PRODUCT OF MEPERIDINE-ANALOG SYNTHESIS [J].
LANGSTON, JW ;
BALLARD, P ;
TETRUD, JW ;
IRWIN, I .
SCIENCE, 1983, 219 (4587) :979-980
[50]   Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice [J].
Larsson, NG ;
Wang, JM ;
Wilhelmsson, H ;
Oldfors, A ;
Rustin, P ;
Lewandoski, M ;
Barsh, GS ;
Clayton, DA .
NATURE GENETICS, 1998, 18 (03) :231-236