端粒与年龄相关性疾病：端粒生物学如何影响临床模式。
Telomeres and age-related disease: how telomere biology informs clinical paradigms.
机构信息
Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
出版信息
J Clin Invest. 2013 Mar;123(3):996-1002. doi: 10.1172/JCI66370. Epub 2013 Mar 1.
Abstract
Telomere length shortens with age and predicts the onset of replicative senescence. Recently, short telomeres have been linked to the etiology of degenerative diseases such as idiopathic pulmonary fibrosis, bone marrow failure, and cryptogenic liver cirrhosis. These disorders have recognizable clinical manifestations, and the telomere defect explains their genetics and informs the approach to their treatment. Here, I review how telomere biology has become intimately connected to clinical paradigms both for understanding pathophysiology and for individualizing therapy decisions. I also critically examine nuances of interpreting telomere length measurement in clinical studies.
摘要
端粒长度随年龄的增长而缩短，并可预测复制性衰老的发生。最近，短端粒与特发性肺纤维化、骨髓衰竭和隐源性肝硬化等退行性疾病的病因有关。这些疾病具有明显的临床表现，端粒缺陷解释了它们的遗传学，并为治疗方法提供了信息。在这里，我回顾了端粒生物学如何与临床范例密切相关，无论是为了理解病理生理学还是为了个体化治疗决策。我还批判性地检查了在临床研究中解释端粒长度测量的细微差别。
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