Identification of a Val 145 Ile substitution in the human myelin oligodendrocyte glycoprotein: lack of association with multiple sclerosis. The Réseau de Recherche Clinique INSERM sur la Susceptibilité Génétique à la Sclérose en Plaques.
Mult Scler
; 3(6): 377-81, 1997 Dec.
Article
in En
| MEDLINE
| ID: mdl-9493637
ABSTRACT
Myelin/oligodendrocyte glycoprotein (MOG) is a major target antigen in experimental autoimmune encephalomyelitis and it has been suggested that it may as well play a key role in the demyelination process in multiple sclerosis (MS). As MOG variants could be pathogenic in autoimmune demyelinating diseases of the central nervous system, we analysed the coding sequence of MOG in MS patients and described a G-->A transition occurring in exon 3 of the human MOG gene. The mutation predicts that isoleucine substitutes for a valine at codon 145 (Val 145 Ile) in the transmembrane region of the protein. This is the first aminoacid substitution reported in human MOG. The polymorphism can be detected by restriction enzyme digestion of genomic DNA or reverse-transcribed PCR amplified products, making it a simple tool to detect a potential implication of MOG alleles in susceptibility to MS by association study. The analysis of 83 unrelated MS patients and 82 unrelated healthy controls showed that the polymorphism is found in similar proportions in MS patients (18%) and controls (14.6%). It is therefore unlikely that the MOG Val 145 Ile variant is responsible for genetic susceptibility to MS.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Myelin-Associated Glycoprotein
/
Amino Acid Substitution
/
Multiple Sclerosis
/
Mutation
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Mult Scler
Journal subject:
NEUROLOGIA
Year:
1997
Document type:
Article
Affiliation country:
France