Association between Synapsin III gene promoter polymorphisms and multiple sclerosis.

Abstract:

:Although multiple sclerosis (MS) is considered to be an inflammatory demyelinating disease, increasing evidence indicates that it is also an axonal pathology; indeed, studies of experimental allergic encephalitis showed that several neuronal proteins such as synapsins take part in the pathogenesis of the axonal dysfunction. Synapsins are a family of abundant neuron-specific phosphoproteins with crucial roles in synaptogenesis and neuronal plasticity. Distinct genes encode the three different isolated proteins (I, II and III); of interest, the gene of synapsin III (SYN3) is located in the chromosome 22q12-q13, a locus close to one of the candidate susceptibility regions (22q13.1) for MS. In the present study we selected two polymorphisms (g.-631C > G and g.-196A > G) within the SYN3 5'-promoter region because of the protein's role and genetic location; we analysed the allele and genotype distributions of these polymorphisms in a selected MS population of southern Italy. An inverse association between MS and the g-631C > G polymorphism was found; indeed, the two polymorphisms were in almost complete linkage disequilibrium and the haplotype analysis showed that the C631/A196 haplotype seemed to confer a significant protection against MS.

journal_name

J Neurol

journal_title

Journal of neurology

authors

Liguori M,Cittadella R,Manna I,Valentino P,La Russa A,Serra P,Trojano M,Messina D,Ruscica F,Andreoli V,Romeo N,Livrea P,Quattrone A

doi

10.1007/s00415-004-0293-7

keywords:

subject

Has Abstract

pub_date

2004-02-01 00:00:00

pages

165-70

issue

2

eissn

0340-5354

issn

1432-1459

journal_volume

251

pub_type

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