Academic
Publications
Association between Synapsin III gene promoter polymorphisms and multiple sclerosis

Association between Synapsin III gene promoter polymorphisms and multiple sclerosis,10.1007/s00415-004-0293-7,Journal of Neurology,Maria Liguori,Rita

Association between Synapsin III gene promoter polymorphisms and multiple sclerosis   (Citations: 7)
BibTex | RIS | RefWorks Download
Maria Liguori, Rita Cittadella, Ida Manna, Paola Valentino, Antonella La Russa, Paolo Serra, Maria Trojano, Demetrio Messina, Francesca Ruscica, Virginia Andreoli, Nelide Romeo, Paolo Livreahttp://academic.research.microsoft.com/io.ashx?type=5&id=34771418&selfId1=0&selfId2=0&maxNumber=12&query=
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: Journal of Neurology - J NEUROL , vol. 251, no. 2, pp. 165-170, 2004
Cumulative Annual
View Publication
The following links allow you to view full publications. These links are maintained by other sources not affiliated with Microsoft Academic Search.
Sort by: