Mitochondrial Dysfunction and Susceptibility to Parkinson's disease: New Models of Pathogenetic Interactions

帕金森氏症是仅次于阿尔茨海默病的第二大神经退行性疾病。在英国，它影响到大约150,000-200,000人，这是一个严重的负担，降低了患者和护理人员的生活质量。帕金森氏病的病因尚不完全清楚，但对家族性帕金森氏病的病因有许多见解，这些见解为那些可能导致疾病影响大多数人的机制提供了宝贵的见解。帕金森氏症的遗传原因包括PINK1基因的异常。PINK1已被发现参与细胞内的能量产生，也有其他重要过程的反应，如自由基的产生。这笔赠款涉及世界上来自英国、德国、意大利和加拿大的四个实验室。所有这些都主要关注PINK1功能。他们联合起来进行研究，以确定PINK1缺乏如何使个人容易患上帕金森氏症，以及这种缺乏如何也可能与导致帕金森氏症的其他遗传异常相互作用。重点是确定分子事件的序列，即PINK1缺乏的结果，以确定可能适合于药物干预的潜在靶点，以减缓或防止PINK1相关细胞异常的进展。这些靶点随后将在其他帕金森氏病模型中进行评估，特别是它们在特发性帕金森病中的适用性研究。

Parkinson's disease is the second most common neurodegenerative disorder after Alzheimer's disease. It affects approximately 150,000-200,000 in the UK and that represents a significant burden in terms of reduced quality of life of patient and carer. The cause of Parkinson's disease is not yet completely understood, but there are many insights into causes of familial Parkinson's disease which have provided valuable insight into those mechanisms that may result in the disease affecting the majority of people. The genetic causes of Parkinson's disease include abnormalities of the PINKl gene. PINKl has been found to be involved in energy production within the cell, there is also response for other important processes such as the generation of free radicals. This grant involves four laboratories in the world from the UK, Germany, Italy and Canada. All of which have a major focus of interest on PINKl function. They have come together to collaborate in their research to identify how PINKl deficiency makes individuals susceptible to the development of Parkinson's disease and how this deficiency might also interact with other genetic abnormalities that cause Parkinson's disease. The focus is on identifying the sequence of molecular events, the results from PINKl deficiency to identify potential targets that may be suitable for drug intervention to slow or prevent progression of the PINKl related cell abnormalities. These targets will then be assessed in other models of Parkinson's disease and particularly for their suitability to be studied in idiopathic Parkinson's disease.