% 0期刊文章% Elena Pegoraro %一个路易莎Piva卢卡·贝洛% %一个马里奥Ermani Andrea Barp % %一个路易莎Politano % Eugenio麦克利%斯特凡诺Previtali %一个Yvan多浪迪警官%一个卡洛Minetti克劳迪奥·布鲁诺% %安吉拉Berardinelli % Giacomo Comi %阿黛勒维中保%的詹尼·Soraru %一个iziana Mongini索尼娅·梅西纳% %一个恩里科·贝尔蒂尼%亚历山德拉Ferlini %一个罗伯塔Battini弗朗西斯卡Gualandi % % Patrizia Boffi %玛丽窗格%一个朱塞佩·维塔%一个Corrado Angelini埃里克·霍夫曼% % T骨桥蛋白在杜氏肌萎缩症(S15.002) % D J神经病学2012% % P S15.002-S15.002 % V 78% N 1补充% X目的:测试的效果SPP1 rs28357094纵向队列的动态DMD患者和解剖的分子机制增加rs28357094与G等位基因相关疾病严重程度。首页背景骨桥蛋白(OPN SPP1基因编码)是一个由多个细胞类型包括肌母细胞分泌糖蛋白表达。在mdx肌肉OPN调节通过减少炎症和纤维化改变生长因子b (TGFB)。在杜氏肌营养不良症(DMD)多态性SPP1子地区的疾病进展的(rs28357094)是一个决定因素。设计/方法:80 rs28357094 DMD患者基因分型和分层TT和TG / GG根据主导模式。基因型比较表型使用动态评估北极星(NSAA)和6分钟步行试验(6 mwt)得分在T0和病人。肌肉活检的患者选择的量化研究TGFB和转化生长因子b受体2 (TGFBR2) mRNA和SPP1信使rna和蛋白质,肌肉组织学和炎性细胞浸润。TGFBR2基因的多态性(rs4522809)基因分型的患者。结果:两NSAA配对t检验显示出显著性差异(p = 0.013)和6 mwt (p = 0.03)之间的基线和随访12个月后DMD患者携带G等位基因。T组差异不显著。OPN在DMD肌肉调节。没有明显的骨桥蛋白mRNA和蛋白表达的差异也在TGFB和TGFBR2 G和T基因型之间的信使rna rs28357094被发现。 An increase in CD4+ and CD68 cells in the patients carrying the T allele at rs28357094 was observed. TGFBR2 rs4522809 polymorphism predicted SPP1 mRNA level.Conclusions: SPP1 genotype is a strong disease modifier in DMD and may be relevant as covariate in DMD clinical trials. OPN modulates inflammatory changes and TGFBR2 genotype predicts osteopontin in DMD muscle.Disclosure: Dr. Pegoraro has received personal compensation for activities with BioMarin Pharmaceutical Inc. and MEDA Pharmaceuticals Inc. Dr. Bello has nothing to disclose. Dr. Piva has nothing to disclose. Dr. Barp has nothing to disclose. Dr. Ermani has nothing to disclose. Dr. Politano has nothing to disclose. Dr. Mercuri has received personal compensation for activities with Aceleron Pharma and PTC Therapeutics, Inc./Genzyme Corporations. Dr. Mercuri has received personal compensation in an editorial capacity for Neuromuscular Disorders, Annals of Neurology, Developmental Medicine & Child Neurology, and Neuropediatrics. Dr. Mercuri has received research support from Telethon Italy and SMA Europe. Dr. Previtali has nothing to disclose. Dr. Torrente has nothing to disclose. Dr. Bruno has nothing to disclose. Dr. Minetti has nothing to disclose. Dr. Berardinelli has nothing to disclose. Dr. Comi has received research support from Telethon Italy and SMA Europe. Dr. D'Amico has nothing to disclose. Dr. Soraru' has nothing to disclose. Dr. Messina has nothing to disclose. Dr. Mongini has received personal compensation for activities with Telethon Italy and Genzyme Corporation. Dr. Mogini has received research support from AIFA and Telethon Italy. Dr. Bertini has received personal compensation for activities with Telethon Italy and SMA Europe. Dr. Ferlini has nothing to disclose. Dr. Gualandi has nothing to disclose. Dr. Battini has nothing to disclose. Dr. Boffi has nothing to disclose. Dr. Pane has nothing to disclose. Dr. Vita has nothing to disclose. Dr. Hoffman has received personal compensation for activities with investment bankers as a consultant.Dr. Hoffman has received (royalty or license fee or contractual rights) payments from Children's Hospital Boston.Dr. Hoffman holds stock and/or stock options in ReveraGen Biopharma, which sponsored research in which Dr. Hoffman was involved as an investigator. Dr. Angelini has received personal compensation for activities with Genzyme Corporation. Tuesday, April 24 2012, 15:00 pm-16:30 pm %U