Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Nat Rev Genet. 2012 Oct;13(10):693-704. doi: 10.1038/nrg3246. Epub 2012 Sep 11.
There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes.
越来越多的证据表明端粒功能障碍在许多退行性疾病中起着因果作用。它们的表现包括特发性肺纤维化和骨髓衰竭等常见疾病状态。虽然这些疾病在临床上似乎各不相同,但它们共同构成了一个单一的综合征谱,其特征是端粒缺陷短。在这里,我们回顾端粒综合征的表现和独特的遗传学。我们还讨论了它们的潜在分子机制及其对理解常见与年龄相关的疾病过程的意义。