Truncating presenilin mutations and their effects on gamma-secretase activity, tau and beta-catenin - insights into Alzheimers disease and cancer

癌症和痴呆症是老年人的主要疾病，在澳大利亚人口老龄化中越来越重要。95%的阿尔茨海默病是自发性的（而不是遗传性的），但我们对它的分子机制知之甚少。我们发现截短的早老素蛋白能有效地抑制正常的蛋白质功能，这表明衰老细胞中早老素功能的改变可能是自发性和遗传性阿尔茨海默病之间的一个共同的分子联系，并可能导致额颞叶痴呆和癌症。我们的研究将表明这种现象是否可能为我们对这些疾病的理解提供突破，并成为研究其改善和/或预防的一个富有成效的领域。

Cancer and dementia are primarily afflictions of the aged and are increasingly important in an aging Australian population. 95% of all Alzheimer's disease is spontaneous (not inherited) but we know little about the molecular mechanisms underlying it. Our discovery that truncated presenilin proteins potently inhibit normal protein function suggests that changes in presenilin function in aged cells might be a common molecular link between spontaneous and inherited Alzheimer's disease and could contribute to frontotemporal dementia and cancer. Our research will show whether this phenomenon might provide a breakthrough in our understanding of these diseases and be a productive area for research into their amelioration and/or prevention.