J Korean Neurol Assoc > Volume 20(6); 2002 > Article

Journal of the Korean Neurological Association 2002;20(6): 694-698.

"가족성 ALS 연관성 Cu,Zn-Superoxide Dismutase 변이세포의 신경돌기 생성장애"

박경석 , 김현정 김만호 이광우

인제대학교 의과대학 서울백병원 신경과학교실,서울대학교 의과대학 신경과학교실

"Impairment of Neurite Formation in Familial ALS-associated Cu, Zn-Superoxide Dismutase Mutant Cells"

Kyung-Seok Park, M.D

"Department of Neurology, Inje University Seoul Paik Hospital, and Departments of Neurology, College of Medicine, Seoul National University"

Abstract

"Background : Mutations in the human Cu, Zn-superoxide dismutase (SOD1) gene have been identified in some cases of familial amyotrophic lateral sclerosis (ALS). Neuronal cells with mutant SOD1 gene promoted cell death during dif-ferentiation by dibutyryl cAMP and aphidicolin. The aim of this study is to delineate if there is an impairment of the neural differentiation process in mutant SOD1 cells. Methods : We studied the motoneuron-neuroblastoma hybrid cells (VSC 4.1) expressing wild-type or mutant SOD1 (G93A) during the differentiation by dibutyryl cAMP and aphidicolin. Results : Mutant SOD1 cell (G93A) showed an impairment in the neurite formation. Western blot analysis revealed that the amount of neurofilament decreased before differentiation. A decrease in the amount of MAP-2 is observed during differentiation. C o n c l u s I o n s : Our results suggest that the impairment in the neurite formation of mutant SOD1 cell (G93A) is a differentiation failure and is associated with neuronal cell death.Key Words : Familial amyotrophic lateral sclerosis (ALS), Mutations in Cu, Zn-superoxide dismutase (SOD1), Neural differentiation, Neurite formation, Neuronal death"