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Immun Ageing. 2009 Apr 20;6:4. doi: 10.1186/1742-4933-6-4.

Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model.

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  • 1Laboratório de Pesquisa em Produtos Naturais, Departamento de Ciências físicas e Biológicas, Centro de Ciências Biológicas e da Saúde, Universidade Regional do Cariri, Crato (CE), Brazil. hdmcoutinho@gmail.com

Abstract

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.

PMID:
19379495
[PubMed]
PMCID:
PMC2674425
Free PMC Article

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