一项研究将SNCA基因突变与帕金森氏基因突变连接起来, A study links a SNCA gene mutation to Parkinson’s, enabling early detection years before symptoms via reprogrammed brain cells.

Wolloongong大学的Lezanne Ooi教授的一项新研究侧重于SNCA基因中与帕金森病有关的基因突变,这种突变导致脑细胞中有害蛋白质的积累。 A new study by University of Wollongong’s Professor Lezanne Ooi focuses on a genetic mutation in the SNCA gene linked to Parkinson’s disease, which causes harmful protein buildup in brain cells. 研究人员利用重新规划技术,正在将人类细胞转化为受影响的脑细胞,以研究早期疾病过程,目的是在出现运动症状之前的几年内进行诊断。 Using reprogramming techniques, researchers are transforming human cells into affected brain cells to study early disease processes, aiming to enable diagnosis years before motor symptoms appear. 非运动征兆,如失去气味,可能会在20年前出现运动问题,为早期干预提供一个窗口。 Non-motor signs like loss of smell may precede movement issues by up to two decades, offering a window for early intervention. 研究可以改善实验室模型,加快治疗发展,帮助有遗传风险的家庭避免延迟诊断,如Amelia Dowe的母亲等案例所示,后者后来的诊断导致通过治疗和生活方式的改变提高流动性和信心。 The research could improve lab models, accelerate treatment development, and help families with hereditary risk avoid delayed diagnoses, as seen in cases like Amelia Dowe’s mother, whose later diagnosis led to improved mobility and confidence through treatment and lifestyle changes.