意大利科學(xué)家近日發(fā)現(xiàn)與多發(fā)性硬化癥相關(guān)的一種基因。這一研究對(duì)于了解多發(fā)性硬化癥的發(fā)病機(jī)理十分重要,，有助于研發(fā)出相關(guān)治療藥物,。
意大利國(guó)家科研委員會(huì)神經(jīng)組織和神經(jīng)藥物研究所,、卡利亞里大學(xué)等機(jī)構(gòu)合作研究發(fā)現(xiàn),，基因CBLB的變異會(huì)增加多發(fā)性硬化癥發(fā)作的風(fēng)險(xiǎn),。動(dòng)物實(shí)驗(yàn)結(jié)果也顯示,，如果人為令實(shí)驗(yàn)鼠缺乏這種基因，實(shí)驗(yàn)鼠會(huì)患上一種與多發(fā)性硬化癥十分相似的疾病,。
多發(fā)性硬化癥是一種神經(jīng)系統(tǒng)疾病，患者自身免疫細(xì)胞會(huì)錯(cuò)誤攻擊神經(jīng)元髓鞘,，造成患者出現(xiàn)視覺障礙,、肌肉無力等癥狀,。(生物谷Bioon.com)
生物谷推薦原文出處：
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.
