TY - JOUR
T1 - Chondroitin sulfate β-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism
T2 - Association with progression of multiple sclerosis
AU - Saigoh, Kazumasa
AU - Yoshimura, Satoshi
AU - Izumikawa, Tomomi
AU - Miyata, Shinji
AU - Tabara, Yasuharu
AU - Matsushita, Takuya
AU - Miki, Tetsuro
AU - Miyamoto, Katsuichi
AU - Hirano, Makito
AU - Kitagawa, Hiroshi
AU - Kira, Jun Ichi
AU - Kusunoki, Susumu
N1 - Funding Information:
This work was supported in part by the Ministry of Health, Labor and Welfare of Japan (Research on intractable diseases [H23-017]), the Ministry of Education, Culture, Sports, Science and Technology of Japan (Grants-in-Aid for Scientific Research, 24110518 and 26110721 ), and Practical Research Project for Rare/Intractable Diseases ” from Japan Agency for Medical Research and Development, AMED.
Publisher Copyright:
© 2016 Elsevier Ireland Ltd and Japan Neuroscience Society.
PY - 2016/7/1
Y1 - 2016/7/1
N2 - Chondroitin sulfate proteoglycans (CSPGs) are a constituent of the matrix of the central nervous system (CNS), likely participating as regulatory molecules in the process of demyelination, remyelination, axonal degeneration and regeneration in the CNS. ChGn-1 is a key enzyme for production of CSPGs and knock-out mice of this gene showed better recovery from spinal cord injury. We hypothesized that the clinical course of multiple sclerosis (MS) is influenced by the level of expression of ChGn-1 gene. We recruited 147 patients with MS and 181 healthy control subjects and analyzed single nucleotide polymorphisms (SNPs) of this gene. We found the coding SNP (cSNP: rs140161612) in approximately 10% of patients with MS as well as normal controls. The cSNP is changed from serine to leucine at position 126 (p.S126L). The expressed ChGn-1 mutant proteins exhibited no enzyme activities in COS-1 cells. In men, patients who had MS with S126L had a slower disease progression. This cSNP might be associated with the sex differences in clinical course of MS.
AB - Chondroitin sulfate proteoglycans (CSPGs) are a constituent of the matrix of the central nervous system (CNS), likely participating as regulatory molecules in the process of demyelination, remyelination, axonal degeneration and regeneration in the CNS. ChGn-1 is a key enzyme for production of CSPGs and knock-out mice of this gene showed better recovery from spinal cord injury. We hypothesized that the clinical course of multiple sclerosis (MS) is influenced by the level of expression of ChGn-1 gene. We recruited 147 patients with MS and 181 healthy control subjects and analyzed single nucleotide polymorphisms (SNPs) of this gene. We found the coding SNP (cSNP: rs140161612) in approximately 10% of patients with MS as well as normal controls. The cSNP is changed from serine to leucine at position 126 (p.S126L). The expressed ChGn-1 mutant proteins exhibited no enzyme activities in COS-1 cells. In men, patients who had MS with S126L had a slower disease progression. This cSNP might be associated with the sex differences in clinical course of MS.
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U2 - 10.1016/j.neures.2016.01.002
DO - 10.1016/j.neures.2016.01.002
M3 - Article
C2 - 26806424
AN - SCOPUS:84957899770
SN - 0168-0102
VL - 108
SP - 55
EP - 59
JO - Neuroscience Research
JF - Neuroscience Research
ER -