Mitochondrial encephalomyopathies: What next?

被引：48
作者：
DiMauro, S [1 ]
机构：
[1] COLUMBIA PRESBYTERIAN MED CTR,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY,DEPT NEUROL,NEW YORK,NY 10032
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1996年 / 19卷 / 04期
关键词：
D O I：
10.1007/BF01799110
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
In few areas of medicine has progress been more spectacular than in the field of mitochondrial diseases, especially those related to mtDNA mutations. Much remains to be done, however, and this brief review discusses the following areas of research where progress has been more limited or data are still controversial: (1) the molecular basis of respiratory-chain defects Clue to nuclear DNA mutations; (2) defects of mitochondrial protein importation; (3) defects of intergenomic signalling; (4) pathophysiology of mtDNA-related disorders; (5) ageing and age-related neurodegenerative diseases; (6) therapy; and (7) genetic counselling.
引用
收藏
页码：489 / 503
页数：15
相关论文
共 81 条
[31]   MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) - CLINICAL, BIOCHEMICAL, AND GENETIC FEATURES OF AN AUTOSOMAL RECESSIVE MITOCHONDRIAL DISORDER [J].
HIRANO, M ;
SILVESTRI, G ;
BLAKE, DM ;
LOMBES, A ;
MINETTI, C ;
BONILLA, E ;
HAYS, AP ;
LOVELACE, RE ;
BUTLER, I ;
BERTORINI, TE ;
THRELKELD, AB ;
MITSUMOTO, H ;
SALBERG, LM ;
ROWLAND, LP ;
DIMAURO, S .
NEUROLOGY, 1994, 44 (04) :721-727
[32]  
Hirano M., 1996, Neurology, V46, pA231
[33]   DELETIONS OF MUSCLE MITOCHONDRIAL-DNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHIES [J].
HOLT, IJ ;
HARDING, AE ;
MORGANHUGHES, JA .
NATURE, 1988, 331 (6158) :717-719
[34]  
HOLT IJ, 1990, AM J HUM GENET, V46, P428
[35]   MARKED INCREASE IN MITOCHONDRIAL-DNA DELETION LEVELS IN THE CEREBRAL-CORTEX OF HUNTINGTONS-DISEASE PATIENTS [J].
HORTON, TM ;
GRAHAM, BH ;
CORRALDEBRINSKI, M ;
SHOFFNER, JM ;
KAUFMAN, AE ;
BEAL, MF ;
WALLACE, DC .
NEUROLOGY, 1995, 45 (10) :1879-1883
[36]   DECREASED SYNTHESIS AND INEFFICIENT MITOCHONDRIAL IMPORT OF HSP60 IN A PATIENT WITH A MITOCHONDRIAL ENCEPHALOMYOPATHY [J].
HUCKRIEDE, A ;
AGSTERIBBE, E .
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1994, 1227 (03) :200-206
[37]  
INANA G, 1989, J BIOL CHEM, V264, P17432
[38]   LATE-ONSET MITOCHONDRIAL MYOPATHY [J].
JOHNSTON, W ;
KARPATI, G ;
CARPENTER, S ;
ARNOLD, D ;
SHOUBRIDGE, EA .
ANNALS OF NEUROLOGY, 1995, 37 (01) :16-23
[39]  
KANKONEN JA, 1996, AM J HUM GENET, V58, P763
[40]   HUMAN-CELLS LACKING MTDNA - REPOPULATION WITH EXOGENOUS MITOCHONDRIA BY COMPLEMENTATION [J].
KING, MP ;
ATTARDI, G .
SCIENCE, 1989, 246 (4929) :500-503
123456789