Texas Children's Cancer Center, Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX 77030, USA.
Texas Children's Cancer Center, Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, 1102 Bates Avenue, Suite 1200, Houston, TX 77030, USA.
Ageing Res Rev. 2017 Jan;33:30-35. doi: 10.1016/j.arr.2016.06.002. Epub 2016 Jun 7.
Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease which manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for patients carrying RECQL4 germline mutations. Mutations in RECQL4 are responsible for the majority of cases of RTS. RECQL4 belongs to RECQ DNA helicase family which has been shown to participate in many aspects of DNA metabolism. In the past several years, accumulated evidence indicates that RECQL4 is important not only in cancer development but also in the aging process. In this review, based on recent research data, we summarize the common aging findings in RTS patients and propose possible mechanisms to explain the aging features in these patients.
Rothmund-Thomson 综合征（RTS）是一种罕见的常染色体隐性遗传病，表现出多种加速衰老的临床特征。这些发现包括萎缩性皮肤和色素变化、脱发、骨质疏松症、白内障以及携带 RECQL4 种系突变的患者癌症发病率增加。RECQL4 突变是 RTS 大多数病例的原因。RECQL4 属于 RECQ DNA 解旋酶家族，已被证明参与 DNA 代谢的许多方面。在过去的几年中，积累的证据表明 RECQL4 不仅在癌症发展中很重要，而且在衰老过程中也很重要。在这篇综述中，根据最近的研究数据，我们总结了 RTS 患者的常见衰老发现，并提出了可能的机制来解释这些患者的衰老特征。
