Cockayne Syndrome and beyond- do we find the pathophysiology of premature aging in aging-associated disease?

Cockayne综合征是一种罕见的模型疾病，其研究将对衰老机制产生更深入的了解。通过这些研究，我们希望表明我们已经确定的疾病机制与理解常见的衰老相关疾病（如亨廷顿和阿尔茨海默病）有关。此外，细胞培养实验应该为第一次临床试验铺平道路，以测试药物是否可以改善Cockayne综合征儿童的蛋白质合成紊乱。深入分析蛋白质合成机制，应确定潜在的缺陷，并阐明衰老机体的蛋白质合成机制。由于蛋白质稳态失衡是衰老相关疾病的常见症状，我们希望证明蛋白质合成紊乱可能在这些病理机制中发挥核心作用的假设。这些拟议的工作旨在对迄今为止被低估的衰老过程中的蛋白质合成过程进行新的评估。

Cockayne Syndrome is a rare model-disease, whose investigation should yield deeper insights into the mechanisms of aging. With the proposed works we want to show that the disease-mechanisms we already identified are relevant for the understanding of common aging-associated diseases like Huntington and Alzheimers. Moreover, cell culture experiments should pave the way for first clinical trials to test if pharmaceutical drugs can improve the disturbed protein synthesis in Cockayne syndrome children. In depth analysis of the protein synthesis machinery should identify the underlying defects and elucidate protein synthesis mechanisms of the aging body. As dysbalances in proteinhomeostasis are common symptoms of aging-associated diseases, we want to prove the hypothesis that a disturbed protein synthesis might play a central role in these pathomechanisms. The proposed works intend to lead to a new assessment of the hitherto underestimated process of protein synthesis in aging.