Epstein C J, Motulsky A G
Department of Pediatrics, University of California, San Francisco 94143-0748, USA.
Bioessays. 1996 Dec;18(12):1025-7. doi: 10.1002/bies.950181214.
Werner syndrome is a rare autosomal recessive disorder that mimics some of the characteristics of aging. The gene for this disorder has recently been identified as a helicase of the recQ subclass. Other phenotypically distinctive disorders caused by different helicase mutations include Bloom syndrome, Cockayne syndrome, xeroderma pigmentosum and trichothiodystrophy. Possible mechanisms by which helicases might produce the variable phenotypes are discussed. These include altered nucleotide excision repair and RNA polymerase II-mediated transcription. The discovery of the helicase defect in Werner syndrome provides a road map for future study of its unique pathogenesis and conceivable, but unproved, relationship to the aging process.
沃纳综合征是一种罕见的常染色体隐性疾病，它具有一些衰老的特征。最近已确定该疾病的基因是recQ亚类的解旋酶。由不同解旋酶突变引起的其他具有明显表型的疾病包括布卢姆综合征、科凯恩综合征、着色性干皮病和毛发硫营养不良。文中讨论了解旋酶可能产生可变表型的潜在机制。这些机制包括核苷酸切除修复的改变以及RNA聚合酶II介导的转录。沃纳综合征中解旋酶缺陷的发现为其独特发病机制以及与衰老过程可能存在（但未经证实）的关系的未来研究提供了路线图。
