| Myasthenia gravis (MG) is considered as an autoimmune disease caused by circulating antibodies against acetylcholine receptor (AchR) and presynaptic membrane receptor (PrsmR) at neuromuscular junction. MG may be a complex polygenic trait and heterogeneity disease. However, some phenomenon could not be well explained. For example: (1) Although about 5%~15% of patients did not have detectable anti-AchR antibody, they still have some typical clinical features of MG. (2) Besides AchR antibody, there are more than 30 antibodies related to MG, which make difficult to study the specialties of all these antibodies and genes coding the antigen. (3) Whether there exist other pathogenetic factors expect AchR antibodies and whether the major regulator factor of the thymus and skeletal muscle is the same. (4) It is still unclear what are the control genes in MG patients.Tumor Necrosis Factor(TNF) α is a proinflammatory cytokine produced by activated lymphocytes and macrophages. It exerts much effects besides having cytotoxic function and differentiation and proliferation of T and B cells,which is introduced by specific recptors. There are 16 polymorphic microsatellites in TNFa gene region(including promoter region and code region). The -308 polymorphism (TNFa 1/TNFα2, G/A) in premoter region could be important in regulating gene transcription and TNFa secretion. TNFa2 polymorphism was found related to autoimmune disease such as SLE, RA, Chron's disease, IDDM. The presence of A were increased in those patients, which imply TNFa an independent pathogenesis of those diseases. TNFa2 was also found related to MG, but not MS. The aim of the present study was to analyze whether alleles of the TNF NcoI RFLP involed in the pathogenesis of MG and the disease subgroups in Chinese patients.1 Tumor necrosis factor a polymorphism in myasthenia gravisA biallelic polymorphism at position -308 in the promotor of TNFα was screened by...
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