端粒及其对相关疾病的影响

Telomere and Its Effects on Telomere-related Diseases

端粒由简单的DNA(脱氧核糖核酸)高度串联重复序列TTAGGG组成,其位于染色体的末端,端粒DNA与端粒相关的蛋白质对端粒的功能具有重要作用.端粒酶可以合成端粒DNA序列,从而对维持端粒的功能和稳定、基因的完整性及细胞增殖能力具有重要作用.端粒的长度随着年龄的增长和细胞不断分裂而逐渐缩短,这将导致体细胞衰老或发生致癌转化,进而影响健康个体的存活寿命,因此端粒被称为细胞寿命的"生物钟".高的疾病发生率及低存活率均被认为与端粒的缩短密切相关.本文主要介绍了端粒、端粒酶及端粒相关蛋白复合体(shelterins)三者之间的相互关系.一些促进端粒损耗的内源性及外源性因子可导致多种与端粒相关的疾病的发生,包括衰老、癌症、造血缺陷和心血管疾病等.这些发现有助于我们对端粒的理解,并为进一步预防和治疗端粒相关疾病奠定了基础.

Telomeres, located at the end of chromosomes, are composed of simple DNA （deoxyribonucleic acid） highly repetitive ITAGGG. Telomere DNA and telomere related proteins play an important role in the func-tion of telomere. Telomerase can synthesize telomere DNA sequence, thus maintaining the power and stability of te-lomere, gene integrity and fineness. Telomere length shortens with age and cell division, which leads to somatic cell senescence or carcinogenesis, affecting the health and lifespan of individuals. Therefore, telomere is called the “biological clock” of cell life. Shorter telomeres have been associated with increased incidence of diseases and poor survival. Here we provide an overview of telomeres, telomere associated proteins （ shelterins） , telomerase and the interrelationship among them. Many endogenous and external factors that promote telomere loss can lead to a variety of telomere related diseases, including aging, cancer, hematopoietic defects, and cardiovascular barriers. These observations may help us understand the telomeres and encourage the development of therapeutic strategies to pre-vent and treat the telomere related diseases.