School members with HKU and UCL researchers decipher how gene mutation leads to congenital megacolon
To understand the pathogenesis of Hirschsprung’s Disease (HSCR) (also known as congenital megacolon), a recent collaborative study by Prof. Woody W.Y. Chan and Prof. Sham Mai-har, Professors of the School of Biomedical Sciences (SBS) of The Chinese University of Hong Kong (CUHK) and researchers from The University of Hong Kong (HKU) and University College London (UCL) Great Ormond Street Institute of Child Health in the U.K. has revealed that mutation in the Sox10 gene retarded the migration of neural progenitor or stem cells, leading to a deficiency in neural cells in the gut and thus gut motility or movement problem. The related findings have been published in the international journal Gastroenterology, which can be viewed HERE.
“Our new findings not only unravel the mechanism of how Sox10 mutation leads to HSCR, but also suggest that cadherin-19 could be a potential therapeutic target for HSCR. Therapeutic strategies could be developed to increase the level of cadherin-19 in the gut to help rescue defective cell migration in HSCR patients”, said Prof. Woody Chan, the corresponding author of the publication. “Our study revealed how a genetic mutation could lead to problems with cell-cell interactions and cell movements, expanding our scope for addressing disease mechanisms and treatment options”, added Prof. Sham Mai-har.
The related coverage by the Communications and Public Relations Office, CUHK can be viewed HERE.
為了解先天性巨結腸症的發病機制,最近中大生物醫學學院教授陳活彜教授及岑美霞教授聯同香港大學和英國倫敦大學學院兒童健康研究所之研究人員共同研究,發現 Sox10 基因突變會阻礙神經幹細胞遷移到腸道,令腸道無法正常蠕動。其突變與負責調節腸道神經細胞早期發育的「鈣黏蛋白-19」(cadherin-19)水平下降息息相關。因此,補充「鈣黏蛋白-19 」或有望成為先天性巨結腸症的新治療方向。有關研究結果已於國際期刊Gastroenterology發表,論文全文可按此處參閱。
「我們的新發現不僅破解了Sox10基因突變導致先天性巨結腸症的機制,更反映了『鈣黏蛋白-19』可能是先天性巨結腸症的潛在治療靶點,可藉着開發增加腸道『鈣黏蛋白-19』水平的治療方法,讓患者神經幹細胞遷移回復正常。」此研究論文通訊作者陳活彜教授表示。「我們的研究揭示了基因突變如何導致細胞之間的相互作用和遷移出現問題,從而加深了我們對疾病機制和治療方法的認識。」岑美霞教授道。
中大傳訊及公共關係處的有關報導請按此處瀏覽。
为了解先天性巨结肠症的发病机制,最近中大生物医学学院教授陈活彝教授及岑美霞教授联同香港大学和英国伦敦大学学院儿童健康研究所之研究人员共同研究,发现 Sox10 基因突变会阻碍神经干细胞迁移到肠道,令肠道无法正常蠕动。其突变与负责调节肠道神经细胞早期发育的「钙黏蛋白-19」(cadherin-19)水平下降息息相关。因此,补充「钙黏蛋白-19 」或有望成为先天性巨结肠症的新治疗方向。有关研究结果已于国际期刊Gastroenterology发表,论文全文可按此处参阅。
「我们的新发现不仅破解了Sox10基因突变导致先天性巨结肠症的机制,更反映了『钙黏蛋白-19』可能是先天性巨结肠症的潜在治疗靶点,可藉着开发增加肠道『钙黏蛋白-19』水平的治疗方法,让患者神经干细胞迁移回复正常。」此研究论文通讯作者陈活彝教授表示。「我们的研究揭示了基因突变如何导致细胞之间的相互作用和迁移出现问题,从而加深了我们对疾病机制和治疗方法的认识。」岑美霞教授道。
中大传讯及公共关系处的有关报导请按此处浏览。