BBSRC-SFI application: Mechanisms & consequences of HDACs in the NCoR complex, in controlling the activity of MutSb in trinucleotide repeat expansions

我们的DNA通过一种称为错配修复的遗传“拼写检查器”来保护免受不必要的变化。错配修复通常可以防止DNA突变和癌症。因此，错配修复功能是基因组的保护者，也是健康衰老的自然组成部分。然而，这种保护带来了意想不到的代价：遗传性神经系统疾病（如亨廷顿氏病）的风险增加。一些错配修复蛋白以某种方式被破坏并增强导致这些神经系统疾病的突变。这项研究将解决错配修复如何导致这种风险，并将开发新的方法来检测和避免这个问题。这项研究将有助于满足受这些神经系统疾病影响的患者及其家属未得到满足的需求。和爱尔兰。英国partner以其在细胞成分方面的记录而闻名，这些细胞成分是调节健康衰老过程的重要控制点。这位爱尔兰合伙人是错配修复和亨廷顿病方面的专家。这两个团队将联合收割机共同努力，以提高我们对错配修复调控的理解，并为如何避免导致亨廷顿病的突变提供新的见解。

Our DNA is protected from unwanted changes by a genetic 'spellchecker' called mismatch repair. Mismatch repair normally prevents DNA mutations and cancer. Thus, mismatch repair function is a protector of the genome and a natural component for healthy ageing. This protection comes at an unexpected price however: increased risk for inherited neurological diseases such as Huntington's disease. A few mismatch repair proteins somehow become corrupted and enhance mutations that cause these neurological diseases. This research will address how mismatch repair contributes to this risk, and it will develop new ways to detect and avoid the problem. This research will help meet the unmet needs of patients and their families who are affected by these neurological diseases.The research is a strategic partnering of expertise from the U.K. and Ireland. The U.K. partner is world-renowned for his track record on cellular components that act as important control points to regulate the healthy ageing process. The Irish partner is an expert in mismatch repair and Huntington's disease. Together, the two teams will combine their efforts to improve our understanding of regulation of mismatch repair and to provide new insights into how to avoid the mutations that cause Huntington's disease.