Identification of a genetic defect characterized by radiosensitivity and defective p53 stabilization

放射是治疗多种癌症的重要治疗手段。然而，辐射也会导致癌症，当然是在高剂量的情况下，但目前尚不清楚低剂量辐射的威胁，例如在辐射事故附近和高海拔地区。通过对一些罕见综合症的研究，可以更好地了解辐射照射的威胁，这些综合症的特征是对辐射极度敏感和易患癌症。放射敏感性新综合征的识别有助于描述对辐射的总体反应及其与癌症的联系。这个项目的目的是确定什么似乎是一个新的缺陷的分子基础。它具有一些描述良好的综合征共济失调毛细血管扩张（a-t）的特征，即神经退行性变的迹象和对辐射的敏感性，但在这种情况下，a-t中的蛋白质缺陷似乎具有正常功能。计划对辐射信号的一些途径进行全面调查，以确定缺陷的性质。

Radiation is an important therapeutic agent for the treatment of a variety of cancers. However, radiation also causes cancers, certainly at high doses but it remains unclear as to the threat from low dose radiation eg in the vicinity of radiation accidents and at high altitudes. A greater understanding of the threats of radiation exposure is possible from the study of a number of rare syndromes characterized by extreme sensitivity to radiation and predisposition to develop cancer. The identification of new syndromes with radiosensitivity assists in delineating the overall response to radiation and the connection with cancer. This project is designed to identify the molecular basis of what appears to be a novel defect. It has some of the characteristics of a well described syndrome ataxia-telangiectasia (A-T), namely signs of neurodegeneration and sensitivity to radiation but the protein defective in A-T appears to have normal function in this case. A comprehensive investigation of a number of pathways of radiation signaling is planned to identify the nature of the defect.