VHL遗传性癌症综合征的分子基础。

Molecular basis of the VHL hereditary cancer syndrome.

作者信息

Kaelin William G

机构信息

Howard Hughes Medical Institute, Dana-Farber Cancer Institute and Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.

出版信息

Nat Rev Cancer. 2002 Sep;2(9):673-82. doi: 10.1038/nrc885.

DOI:10.1038/nrc885

PMID:12209156

Abstract

The von Hippel-Lindau hereditary cancer syndrome was first described about 100 years ago. The unusual clinical features of this disorder predicted a role for the von Hippel-Lindau gene (VHL) in the oxygen-sensing pathway. Indeed, recent studies of this gene have helped to decipher how cells sense changes in oxygen availability, and have revealed a previously unappreciated role of prolyl hydroxylation in intracellular signalling. These studies, in turn, are laying the foundation for the treatment of a diverse set of disorders, including cancer, myocardial infarction and stroke.

摘要

冯·希佩尔-林道遗传性癌症综合征大约在100年前首次被描述。这种疾病不同寻常的临床特征预示着冯·希佩尔-林道基因（VHL）在氧感应途径中发挥作用。事实上，最近对该基因的研究有助于解读细胞如何感知氧可利用性的变化，并揭示了脯氨酰羟化在细胞内信号传导中一个此前未被重视的作用。反过来，这些研究正在为包括癌症、心肌梗死和中风在内的一系列不同疾病的治疗奠定基础。