Myelin oligodendrocyte gene polymorphisms and childhood multiple sclerosis
2002 | journal article. A publication with affiliation to the University of Göttingen.
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Myelin oligodendrocyte gene polymorphisms and childhood multiple sclerosis
Ohlenbusch, A.; Pohl, D. & Hanefeld, F. (2002)
Pediatric Research, 52(2) art. UNSP 0031-3998/02/5202-0175. DOI: https://doi.org/10.1203/00006450-200208000-00008
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- Authors
- Ohlenbusch, Andreas; Pohl, Daniela; Hanefeld, Folker
- Abstract
- Myelin oligodendrocyte glycoprotein (MOG) is a quantitatively minor glycoprotein of the CNS localized preferentially on the outermost myelin lamellae and the oligodendrocyte plasma membrane. In several animal models, MOG displays highly immunogenic properties by inducing a severe multiple sclerosis-like disease, characterized by inflammatory demyelinating lesions. Immunologic findings implicate MOG as a target autoantigen in multiple sclerosis. We have performed a molecular study on the MOG gene by sequencing the promotor and the entire coding region, as well as the exon-intron boundaries, in 75 children with multiple sclerosis. A total of five unknown polymorphic sites in the promotor region not affecting any of the putative cis-acting transcriptional regulation motifs as well as nine additional base changes in four different exons each with similar distribution in patients and controls (n = 100) were detected. Exon 2 coding for the Ig-like domain revealed two rare heterozygous missense mutations, possibly altering favorable conformational epitopes (P43H; R66P). P43 is part of the encephalitogenic epitope MOG(35-55). A putative Clq binding site in the C"-D loop of the Ig superfamily motif encompasses R66. In conclusion, the polymorphisms observed do not provide evidence to support a significant role for MOG in multiple sclerosis susceptibility.
- Issue Date
- 2002
- Journal
- Pediatric Research
- ISSN
- 0031-3998