犹太大学医学院的研究人员最近发现端粒酶过度活跃以及端粒长度二者与长寿有关。这篇研究报告发表在Proceedings of the National Academy of Sciences杂志上。
端粒(Telomeres)是位于染色体末端的一种特殊结构，在衰老、癌变及其他生物学过程中有重要作用，细胞每分裂一次，其端粒就相应磨损一部分，当端粒变短细胞停止分裂时，即进入细胞衰老期(cell senescence)。
课题组的研究人员以德系犹太人（Ashkenazi Jews）为研究对象，并将实验参与者分为三组：第一组86名平均年龄为97岁身体健康的老人；第二组为175名这些老人的后代；对照组为93名父母均是正常寿命的子女。课题组希望通过该项研究回答两个疑问：1）寿命较长的人是不是有更长的端粒？ 2）如果是，那么端粒较长是否与编码端粒酶的基因发生变异有关？通过研究发现，上述两个问题的答案都为“是”。
课题组发现，寿命更长的人其端粒的长度在细胞分裂过程中保持得更好，长寿的部分原因也可能和细胞内负责端粒维持的基因发生有利变异有关。
而且，研究人员发现，长寿的老人基因组所携带的突变基因能够使产生端粒酶的系统过度活跃，从而能够更高效的维持端粒的长度，这些老人中大多数还能幸免于诸如心血管疾病和糖尿病等老年人常发生的疾病。
这项研究表明，端粒长度以及端粒酶基因变异这两个原因将使人类的寿命更长。（生物谷Bioon.com）
端粒是否与长寿有关？
端粒研究方兴未艾——生物谷专访童坦君院士和谭铮研究员
衰老机理研究的“老黄牛”——生物谷专访印大中教授
端粒及端粒酶研究获09年诺贝尔生理学或医学奖
Nature：研究揭示端粒酶关键部位三维结构
Nat Cell Biol：发现维持端粒长度重要分子
PNAS：FOXO3A基因变异的人更加长寿
Nature：蛔虫的启示 少食而长寿
PNAS：蛋白质稳定性可能是长寿关键
PNAS：奇特无毛鼹鼠可能蕴藏长寿秘密
生物谷推荐原始出处：
PNAS November 13, 2009, doi: 10.1073/pnas.0906191106
Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians
Gil Atzmonab12, Miook Choa1, Richard M. Cawthonc, Temuri Budagovb, Micol Katzb, Xiaoman Yangb, Glenn Siegelb, Aviv Bergmand, Derek M. Huffmanab, Clyde B. Schechtere, Woodring E. Wrightf, Jerry W. Shayf, Nir Barzilaiab, Diddahally R. Govindarajug and Yousin Suhab2
aDepartments of Medicine and Genetics, Albert Einstein College of Medicine, Bronx, NY 10461
bInstitute for Aging Research, Diabetes Research and Training Center, Albert Einstein College of Medicine, Bronx, NY 10461
cDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84112
dDepartment of Systems and Computational Biology, Albert Einstein College of Medicine, Bronx, NY 10461
eDepartment of Family and Social Medicine, Albert Einstein College of Medicine, Bronx, NY 10461
fDepartment of Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390
gDepartment of Neurology, Boston University School of Medicine, Boston, MA 02118
Telomere length in humans is emerging as a biomarker of aging because its shortening is associated with aging-related diseases and early mortality. However, genetic mechanisms responsible for these associations are not known. Here, in a cohort of Ashkenazi Jewish centenarians, their offspring, and offspring-matched controls, we studied the inheritance and maintenance of telomere length and variations in two major genes associated with telomerase enzyme activity, hTERT and hTERC. We demonstrated that centenarians and their offspring maintain longer telomeres compared with controls with advancing age and that longer telomeres are associated with protection from age-related diseases, better cognitive function, and lipid profiles of healthy aging. Sequence analysis of hTERT and hTERC showed overrepresentation of synonymous and intronic mutations among centenarians relative to controls. Moreover, we identified a common hTERT haplotype that is associated with both exceptional longevity and longer telomere length. Thus, variations in human telomerase gene that are associated with better maintenance of telomere length may confer healthy aging and exceptional longevity in humans.
