Premature aging in RecQ helicase-deficient human syndromes
Premature aging in RecQ helicase-deficient human syndromes
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DOI：
10.1016/s1357-2725(02)00039-0
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发表时间：
2002-11-01
影响因子：
4
通讯作者：
Hickson, ID
中科院分区：
文献类型：
--
作者：
Mohaghegh, P;Hickson, ID
RecQ家族的DNA解旋酶在DNA修复、复制和/或重组途径中具有潜在的作用。在人类中，由BLM、WRN和RECQ4基因编码的RecQ家族解旋酶的缺陷分别导致Bloom's （BS）、Werner's （WS）和rothmond - thomson （RTS）综合征。这些疾病与癌症易感性和/或早衰有关。在布鲁姆综合症中，受影响的个体在早期易患多种癌症。维尔纳综合征是一种具有复杂表型的早衰疾病，包括许多从青春期开始发展的与年龄相关的疾病，包括头发变白和稀疏、双侧白内障形成、11型糖尿病、骨质疏松症和动脉粥样硬化。罗斯蒙-汤姆森综合征患者的表型还包括一些与早衰相关的特征，以及对某些癌症的易感性。在这里，我们讨论这些RecQ解旋酶缺陷疾病的分子基础。(C) 2002 Elsevier Science Ltd.版权所有。
The RecQ family of DNA helicases have potential roles in DNA repair, replication and/or recombination pathways. In humans, a defect in the RecQ family helicases encoded by the BLM, WRN and RECQ4 genes gives rise to Bloom's (BS), Werner's (WS) and Rothmund-Thomson (RTS) syndromes, respectively. These disorders are associated with cancer predisposition and/or premature aging. In Bloom's syndrome, affected individuals are predisposed to many types of cancer at an early age. Werner's syndrome is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type 11 diabetes mellitus, osteoporosis and atherosclerosis. The phenotype of Rothmund-Thomson syndrome patients also consists of some features associated with premature aging, as well as predispositon to certain cancers. Here, we discuss the molecular basis of these RecQ helicase-deficient disorders. (C) 2002 Elsevier Science Ltd. All rights reserved.