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常见的神经退行性疾病。在英国，它影响了大约15万到20万人，这对患者和护理人员的生活质量降低来说是一个巨大的负担。帕金森氏症的病因尚不完全清楚，但对家族性帕金森氏症的病因有许多见解，这些见解为可能导致影响大多数人的疾病的机制提供了有价值的见解。帕金森病的遗传原因包括PINKl基因的异常。研究发现，PINKl不仅参与细胞内能量的产生，还参与自由基的生成等其他重要过程。这项资助涉及来自英国、德国、意大利和加拿大的四个实验室。所有这些都主要关注于PINKl函数。他们聚集在一起合作进行研究，以确定PINKl缺陷如何使个体容易患上帕金森病，以及这种缺陷如何与导致帕金森病的其他遗传异常相互作用。重点是确定分子事件的序列，PINKl缺乏的结果，以确定可能适合药物干预的潜在靶标，以减缓或防止PINKl相关细胞异常的进展。这些靶点将在帕金森病的其他模型中进行评估，特别是在特发性帕金森病中进行研究的适用性。

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.