Stella Giulia M, Balestro Elisabetta, Lacedonia Donato, Baraldo Simonetta
Laboratory of Biochemistry and Genetics, Pulmonology Unit, Department of Molecular Medicine, San Matteo Polyclinic and Institute for Scientific Research, Pavia, Italy -
Minerva Med. 2016 Mar 2.
Growing evidence demonstrates that a number of clinical disorders may be related to genetic defects in telomere replication and extension. Overall, these syndromes are referred to as "telomeropathies" or "telomere disorders/syndromes"; they are increasingly being identified. In adulthood, idiopathic pulmonary fibrosis (IPF) is the most common symptom of telomeropathy. IPF is a progressive and fatal disease characterized by scarring of the lungs that thickens the interstitium ultimately leading to irreversible respiratory failure. Starting from this basis, the present review analyzes and discusses the findings of a relevant paper by Gautam George and colleagues from the Division of Pulmonary and Critical Care Medicine at Brigham and Women's Hospital and Harvard Medical School in Boston, MA, recently appeared on the prestigious journal CHEST. In a cohort of patients addressed to lung transplantation, authors were able to demonstrate that subclinical bone marrow and liver abnormalities can be seen in patients with interstitial lung disease (ILD) and short telomeres, in some cases in the absence of clinically significant abnormalities in peripheral blood count and liver function tests. This observation sustains the rationale for further studies aimed to validate telomere length testing as a useful parameter as part of the evaluation for transplant candidacy. A deeper clarification of the complex link between IPF and short telomeres and telomeropathies is required for a new ILD classification, aimed to a fully personalized approach to the disease.
越来越多的证据表明，许多临床疾病可能与端粒复制和延长中的基因缺陷有关。总体而言，这些综合征被称为“端粒病”或“端粒障碍/综合征”；它们越来越多地被发现。在成年期，特发性肺纤维化（IPF）是端粒病最常见的症状。IPF是一种进行性致命疾病，其特征是肺部瘢痕形成，使间质增厚，最终导致不可逆的呼吸衰竭。基于此，本综述分析并讨论了来自马萨诸塞州波士顿布莱根妇女医院和哈佛医学院肺与重症医学科的高塔姆·乔治及其同事最近发表在著名期刊《CHEST》上的一篇相关论文的研究结果。在一组接受肺移植的患者中，作者能够证明，间质性肺疾病（ILD）和短端粒患者可出现亚临床骨髓和肝脏异常，在某些情况下，外周血细胞计数和肝功能检查无临床显著异常。这一观察结果支持了进一步研究的理论依据，旨在验证端粒长度检测作为移植候选评估一部分的有用参数。为了对ILD进行新的分类，以实现对该疾病的完全个性化治疗方法，需要更深入地阐明IPF与短端粒和端粒病之间的复杂联系。
