期刊
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
卷 12, 期 6, 页码 429-439出版社
ACADEMIC PRESS LTD ELSEVIER SCIENCE LTD
DOI: 10.1006/scdb.2001.0280
关键词
Kearns-Sayre syndrome; MELAS; Leigh syndrome; blood-CSF barrier; blood-brain barrier
资金
- NICHD NIH HHS [P01 HD 32062] Funding Source: Medline
- NINDS NIH HHS [NS 11766] Funding Source: Medline
Genetic defects affecting the mitochondrial respiratory chain comprise an important cause of encephalomyopathies. Considering the structural complexity of the respiratory chain, its dual genetic control, and the numerous nuclear genes required for proper assembly of the enzyme complexes, the phenotypic heterogeneity is not surprising. From a neuropathological view point, application of in situ hybridization and immunohistochemistry to study the choroid plexus and brain-blood barrier in 'prototypes' of mitochondrial encephalopathies have revealed alterations that we think are important in the pathogenesis of central nervous system dysfunction in these disorders. As the role of the blood-cerebrospinal fluid (CSF) and brain-blood barriers in mitochondrial encephalopathies is better understood, manipulation of their functions offers promises for therapeutic interventions.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据