意大利科学家近日发现与多发性硬化症相关的一种基因。这一研究对于了解多发性硬化症的发病机理十分重要,有助于研发出相关治疗药物。
意大利国家科研委员会神经组织和神经药物研究所、卡利亚里大学等机构合作研究发现,基因CBLB的变异会增加多发性硬化症发作的风险。动物实验结果也显示,如果人为令实验鼠缺乏这种基因,实验鼠会患上一种与多发性硬化症十分相似的疾病。
多发性硬化症是一种神经系统疾病,患者自身免疫细胞会错误攻击神经元髓鞘,造成患者出现视觉障碍、肌肉无力等症状。(生物谷Bioon.com)
生物谷推荐原文出处:
Nature Genetics doi:10.1038/ng.584
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
Serena Sanna1,18, Maristella Pitzalis2,18, Magdalena Zoledziewska2,18, Ilenia Zara3, Carlo Sidore1,4, Raffaele Murru5, Michael B Whalen4, Fabio Busonero1, Andrea Maschio1, Gianna Costa5, Maria Cristina Melis5, Francesca Deidda2, Fausto Poddie2, Laura Morelli2, Gabriele Farina6, Yun Li7,8,9, Mariano Dei1, Sandra Lai1, Antonella Mulas1, Gianmauro Cuccuru1, Eleonora Porcu1, Liming Liang7,10,11, Patrizia Zavattari12, Loredana Moi5, Elisa Deriu2, M Francesca Urru4, Michele Bajorek13, Maria Anna Satta14, Eleonora Cocco5, Paola Ferrigno15, Stefano Sotgiu6, Maura Pugliatti6, Sebastiano Traccis16, Andrea Angius4, Maurizio Melis15, Giulio Rosati6, Gon?alo R Abecasis7, Manuela Uda1, Maria Giovanna Marrosu5, David Schlessinger17 & Francesco Cucca1,2
A genome-wide association scan of ~6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 × 10?10, OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis.