RESUMO
In recent years,the CTLA-4 immunoglobulin biologics,a negative regulator in the immune system,have been obtained due attention in autoimmune diseases,transplantation rejection,and antineoplastic agents.CTLA-4 can inhibit T cell activation,reduce the expression of RANKL and other cytokines through regulating immune response,and effectively alleviate the process of bone resorption.According to previous study,CTLA-4 was involved in osteoclast-induced bone destruction and bone remodeling.In this review,the effect of CTLA-4 on the autoimmune diseases,on the osteoclast formation,and on the alveolar bone remodeling in the periodontal tissue was involved,and the related research were also evaluated to look forward to possible future basic research and clinical application direction.
RESUMO
<p><b>OBJECTIVE</b>To detect the VHL gene mutations in a Chinese family with nonsyndromic pheochromocytoma.</p><p><b>METHODS</b>Mutations of VHL gene were detected in a Chinese family with nonsyndromic pheochromocytoma. Five patients and fifteen relatives were involved in this study. Peripheral blood was collected and total genomic DNA was prepared for polymerase chain reaction (PCR). PCR products of all the three exons of VHL gene were purified and a direct gene sequence analysis was performed.</p><p><b>RESULTS</b>All the five patients presented a codon 125 from Histidine (H) to Proline (P) change at nucleotide 587 (A --> C) in exon 2. Seven members of fifteen relatives were carriers with the same VHL gene mutation. Two carriers were detected with bilateral adrenal tumors and right renal cyst respectively by ultrasonic inspection.</p><p><b>CONCLUSION</b>The novel VHL gene mutation detected in this kindred may be the causative gene. Genetic test can detect the carriers in an early period. It is recommended as a routine method of genetic test in nonsyndromic pheochromocytoma patients.</p>