Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model.
Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model.
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DOI：
10.1186/1742-4933-6-4
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发表时间：
2009-04-20
期刊：
影响因子：
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通讯作者：
da Nobrega, Raphael Batista
中科院分区：
文献类型：
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作者：
Coutinho, Henrique Douglas M;Falcao-Silva, Vivyanne S;da Nobrega, Raphael Batista
哈钦森-吉尔福德早衰综合症 (HGPS) 是一种罕见的早衰性疾病，属于一组影响核纤层蛋白的核纤层蛋白病。在 HGPS 患者中发现了 LMNA 和 ZMPSTE24 这两个基因的突变。 p.G608G LMNA 突变是最常见的突变。这项工作的目的是对该综合征的临床特征、基因突变和机制进行全面的文献综述，为医护人员做出贡献。本综述表明有必要对 Hutchinson-Gilford 早衰综合征进行更详细的临床鉴定，并需要对该综合征的药理学和药物基因组学方法进行更多研究。
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. The aim of this work was to compile a comprehensive literature review of the clinical features and genetic mutations and mechanisms of this syndrome as a contribution to health care workers. This review shows the necessity of a more detailed clinical identification of Hutchinson-Gilford progeria syndrome and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome.