Biomedical Science Letters (대한의생명과학회지)
- Volume 12 Issue 4
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- Pages.413-418
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- 2006
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- 1738-3226(pISSN)
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- 2288-7415(eISSN)
Phenotypic Analysis of Neurofilament Light Chain E397K Mutant in Cultured Cells
- Kim, Sung-Kuk (Department of Life Science, Collegeof Natural Science, Daejin University) ;
- Chang, Jong-Soo (Department of Life Science, Collegeof Natural Science, Daejin University)
- ;
- 장종수 (대진대학교 자연과학대학 생명과학과)
- Published : 2006.12.31
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.
Keywords
- Neurofilament light chain subunit;
- Charcot-Marie-Tooth;
- Intermediate filament;
- E397K;
- SW13 cells;
- PC12 cells