Ion Channel Mutations in Neuronal Diseases: A Genetics Perspective

被引:25
|
作者
Steinlein, Ortrud K. [1 ]
机构
[1] Univ Munich, Univ Hosp, Inst Human Genet, D-80336 Munich, Germany
关键词
NICOTINIC ACETYLCHOLINE-RECEPTORS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; IDIOPATHIC GENERALIZED EPILEPSY; DEFICIT HYPERACTIVITY DISORDER; FAMILIAL NEONATAL CONVULSIONS; SEVERE MYOCLONIC EPILEPSY; FRONTAL-LOBE EPILEPSY; POTASSIUM CHANNEL; SODIUM-CHANNEL; LUNG-CANCER;
D O I
10.1021/cr300044d
中图分类号
O6 [化学];
学科分类号
0703 ;
摘要
Ortrud K. Steinlein presented a genetics perspective of ion channel mutations in neuronal diseases. He informed that within the central nervous system microglia cells act as immune cells that respond to injury or other perturbations of brain and spinal cord with an array of weapons. Microglia cells monitored the state of health of the central nervous system and showed significant activation in neurodegenerative disorders including Morbus Alzheimer or Parkinson's disease. Their weapons included diverse function such as migration, proliferation, phagocytosis, secretions of multiple cytokines, or chemokines, and promotion of repair. They were called into action by cell-surface molecules that acted as a kind of sensor to detect changes in the microglia environment. These sensors also included multiple ion channels from the chloride, potassium, proton, and calcium subfamilies apart from different kinds of cell-surface receptors and adhesion molecules.
引用
收藏
页码:6334 / 6352
页数:19
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