Mitochondrial encephalopathies. Where next?

被引:8
作者
DiMauro, S [1 ]
Andreu, AL [1 ]
Bonilla, E [1 ]
机构
[1] Columbia Univ Coll Phys & Surg, Dept Neurol, H Houston Merritt Clin Res Ctr Muscular Dystrophy, New York, NY 10032 USA
关键词
coenzyme Q10; mitochondrial DNA; mitochondrial encephalomyopathies; nuclear DNA; ragged red fibers; translocases;
D O I
10.33588/rn.2802.98367
中图分类号
R74 [神经病学与精神病学];
学科分类号
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 pathophysiology of mtDNA related disorders; 2. The molecular base of nDNA mutations; 3. The coenzyme Q10 deficiency; 4. Defects of translocases; 5. Defects of mitochondrial protein importation, and 6. Defects of intergeomonic signalling.
引用
收藏
页码:164 / 168
页数:5
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