Pereira Sandrine, Bourgeois Patrice, Navarro Claire, Esteves-Vieira Vera, Cau Pierre, De Sandre-Giovannoli Annachiara, Lévy Nicolas
INSERM U910, Faculté de Médecine la Timone, 27 Boulevard Jean Moulin, Marseille, France.
Mech Ageing Dev. 2008 Jul-Aug;129(7-8):449-59. doi: 10.1016/j.mad.2008.04.003. Epub 2008 Apr 12.
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.
早老症样综合征是遗传性人类疾病，其表现出的特征让人联想到早衰。在这些综合征中，早衰被定义为“部分性的”，因为只有部分特征加速出现。许多细胞生物学途径与衰老相关，包括胰岛素/生长激素轴的调节、涉及活性氧代谢的途径、热量限制和DNA修复。近年来，与早老症样综合征相关的已鉴定基因数量有所增加，这也可能有助于揭示一般衰老的潜在机制。其中，最近已鉴定出与LMNA基因改变相关的早衰综合征。本综述重点关注哈钦森-吉尔福德早衰综合征和限制性皮肤病，这两种特征明确的与核纤层蛋白相关的早衰综合征，指出了目前关于其病理生理学的知识以及可能治疗方法的进展。
