|
KMID : 0603820060120040413
|
|
Journal of Experimental & Biomedical Science
2006 Volume.12 No. 4 p.413 ~ p.418
|
|
|
Phenotypic Analysis of Neurofilament Light Chain E397K Mutant in Cultured Cells
|
|
Kim Sung-Kuk
Jang Jong-Soo
|
|
|
Abstract
|
|
|
|
Charcot-Marie-Tooth disease (CMT) is blown as one of the inherited disorder of peripheral nervous system. Recently, it was found that point mutations in the neurofilament light subunit (NF-L) gene cause CMT. Neurofilaments (NFs) are heteropolymers consist of NF-L, NF-M and NF-H. To assess the relationship between CMT and NF-L mutation in cellular level, we performed phenotypic analysis of the mutant NF-L (E397K) using cultured cell lines. Vimentin-deficient human adrenal carcinoma SW13 (Vim-) cells have a potential to form the intermediate filaments when the cells are expressing both NF-L and NF-M. Our results show that co-expression of wild type NF-L with NF-M showed intermediate filament formation in SW13 (Vim-) cells, while E397K with NF-M did not. This result means that E397K mutant lost its ability to form the intermediate filament in vivo, and further suggests that the E397K mutation is closely related to CMT.
|
|
|
KEYWORD
|
|
|
Neurofilament light chain subunit, Charcot-Marie-Tooth, Intermediate filament, E397K, SW13 cells, PC12 cells
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|