Role of mitochondria in mutant SOD1 linked amyotrophic lateral sclerosis.
Role of mitochondria in mutant SOD1 linked amyotrophic lateral sclerosis.
复制标题
线粒体在突变体SOD1中的作用联系在一起的肌萎缩性侧面硬化症。
DOI：
10.1016/j.bbadis.2014.02.009
复制
发表时间：
2014-08
影响因子：
6.2
通讯作者：
Trotti, Davide
中科院分区：
文献类型：
--
作者：
Tan, Wenzhi;Pasinelli, Piera;Trotti, Davide
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an adult onset characterized by loss of both upper and lower motor neurons. In ~10% of cases, patients developed ALS with an apparent genetic linkage (familial ALS or fALS). Approximately 20% of fALS displays mutations in the SOD1 gene encoding superoxide dismutase 1. There are many proposed cellular and molecular mechanisms among which, mitochondrial dysfunctions occur early, prior to symptoms occurrence. In this review, we modeled the effect of mutant SOD1 protein via the formation of a toxic complex with Bcl2 on mitochondrial bioenergetics. Furthermore, we discuss that the shutdown of ATP permeation through mitochondrial outer membrane could lead to both respiration inhibition and temporary mitochondrial hyperpolarization. Moreover, we reviewed mitochondrial calcium signaling, oxidative stress, fission and fusion, autophagy and apoptosis in mutant SOD1-linked ALS. Functional defects in mitochondria appear early before symptoms are manifested in ALS. Therefore, mitochondrial dysfunction is a promising therapeutic target in ALS.
登录
查看更多内容
影响因子：
16
作者：
Andersen, Joshua L.;Kornbluth, Sally
通讯作者：
Kornbluth, Sally
影响因子：
11.2
作者：
Comi, GP;Bordoni, A;Scarlato, G
通讯作者：
Scarlato, G
影响因子：
4.3
作者：
Colombini, M
通讯作者：
Colombini, M
影响因子：
3.7
作者：
Dupuis L;Gonzalez de Aguilar JL;Echaniz-Laguna A;Eschbach J;Rene F;Oudart H;Halter B;Huze C;Schaeffer L;Bouillaud F;Loeffler JP
通讯作者：
Loeffler JP
影响因子：
2.5
作者：
ABE, K;PAN, LH;ITOYAMA, Y
通讯作者：
ITOYAMA, Y