HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches.
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.
Pereira
Sandrine
S
INSERM U910, Faculté de Médecine la Timone, 27 Boulevard Jean Moulin, Marseille, France.
Bourgeois
Patrice
P
Navarro
Claire
C
Esteves-Vieira
Vera
V
Cau
Pierre
P
De Sandre-Giovannoli
Annachiara
A
Lévy
Nicolas
N
D000375:Aging; D019588:Aging, Premature / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D000818:Animals; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D051379:Mice; D011371:Progeria / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D012871:Skin Diseases / Q000235:genetics
D034904:Lamin Type A