HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches

Mech Ageing Dev. 2008 Jul-Aug;129(7-8):449-59. doi: 10.1016/j.mad.2008.04.003. Epub 2008 Apr 12.

Abstract

Progeroid syndromes are heritable human disorders displaying features that recall premature ageing. In these syndromes, premature aging is defined as "segmental" since only some of its features are accelerated. A number of cellular biological pathways have been linked to aging, including regulation of the insulin/growth hormone axis, pathways involving ROS metabolism, caloric restriction, and DNA repair. The number of identified genes associated with progeroid syndromes has increased in recent years, possibly shedding light as well on mechanisms underlying ageing in general. Among these, premature aging syndromes related to alterations of the LMNA gene have recently been identified. This review focuses on Hutchinson-Gilford Progeria syndrome and Restrictive Dermopathy, two well-characterized Lamin-associated premature aging syndromes, pointing out the current knowledge concerning their pathophysiology and the development of possible therapeutic approaches.

Publication types

  • Review

MeSH terms

  • Aging
  • Aging, Premature / diagnosis
  • Aging, Premature / genetics*
  • Aging, Premature / therapy*
  • Animals
  • Humans
  • Lamin Type A / genetics
  • Mice
  • Progeria / diagnosis
  • Progeria / genetics*
  • Progeria / therapy*
  • Skin Diseases / genetics

Substances

  • Lamin Type A