Cargando…

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

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 repo...

Descripción completa

Detalles Bibliográficos
Autores principales: Coutinho, Henrique Douglas M, Falcão-Silva, Vivyanne S, Gonçalves, Gregório Fernandes, da Nóbrega, Raphael Batista
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674425/
https://www.ncbi.nlm.nih.gov/pubmed/19379495
http://dx.doi.org/10.1186/1742-4933-6-4
_version_ 1782166633828057088
author Coutinho, Henrique Douglas M
Falcão-Silva, Vivyanne S
Gonçalves, Gregório Fernandes
da Nóbrega, Raphael Batista
author_facet Coutinho, Henrique Douglas M
Falcão-Silva, Vivyanne S
Gonçalves, Gregório Fernandes
da Nóbrega, Raphael Batista
author_sort Coutinho, Henrique Douglas M
collection PubMed
description 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.
format Text
id pubmed-2674425
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-26744252009-04-29 Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model Coutinho, Henrique Douglas M Falcão-Silva, Vivyanne S Gonçalves, Gregório Fernandes da Nóbrega, Raphael Batista Immun Ageing Review 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. BioMed Central 2009-04-20 /pmc/articles/PMC2674425/ /pubmed/19379495 http://dx.doi.org/10.1186/1742-4933-6-4 Text en Copyright © 2009 Coutinho et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Coutinho, Henrique Douglas M
Falcão-Silva, Vivyanne S
Gonçalves, Gregório Fernandes
da Nóbrega, Raphael Batista
Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
title Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
title_full Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
title_fullStr Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
title_full_unstemmed Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
title_short Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
title_sort molecular ageing in progeroid syndromes: hutchinson-gilford progeria syndrome as a model
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674425/
https://www.ncbi.nlm.nih.gov/pubmed/19379495
http://dx.doi.org/10.1186/1742-4933-6-4
work_keys_str_mv AT coutinhohenriquedouglasm molecularageinginprogeroidsyndromeshutchinsongilfordprogeriasyndromeasamodel
AT falcaosilvavivyannes molecularageinginprogeroidsyndromeshutchinsongilfordprogeriasyndromeasamodel
AT goncalvesgregoriofernandes molecularageinginprogeroidsyndromeshutchinsongilfordprogeriasyndromeasamodel
AT danobregaraphaelbatista molecularageinginprogeroidsyndromeshutchinsongilfordprogeriasyndromeasamodel