The Association Of Rapsyn Gene Mutation With Myasthenia Gravis

Objective:Myasthenia gravis (MG) is an autoimmune disease characterized by neurological dysfunction in signal transmission of neuromuscular junction. The pathogenesis of MG is not yet fully understood. The genetic, immunological and environmental factors are closely related. The aim of this paper is to find the correlation between the gene mutation of a membrane protein—receptor-associated protein at the synapse (rapsyn) and the clinical severity of MGMethods:The DNA was extracted from peripheral blood cells, sampled from 36 patients with MG The 8 exon genes of rapsyn were amplified by PCR, and the products of PCR sequenced directly. Each sequence of 8 exon was compared with wild-type rapsyn gene. The correlation between the mutation of rapsyn and the clinical severity of disease was analysed.Results:The nucleotide sequences of exon 1,2,4,7 and 8 of rapsyn tested in the 36 patients were same as those of wild-type rapsyn. Some mutations were found in exon 3,5 and 6 of rapsyn in some cases of MG patients. However, no relationship was detected between these mutations of rapsyn and the clinical severity of the disease.Conclusion:The relationship between the clinical features of MG patients and the gene mutation of rapsyn is not clear. The enlargement of number of patients and continuous investigation of rapsyn mutation should be done in order to provide a new theoretical basis for the pathogenesis of MG and a new clinical gene therapeutical method for MG.