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 Neuroljournal_title
Journal of neurologyauthors
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 Adoi
10.1007/s00415-004-0293-7keywords:
subject
Has Abstractpub_date
2004-02-01 00:00:00pages
165-70issue
2eissn
0340-5354issn
1432-1459journal_volume
251pub_type
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