Current Therapeutic Approaches for Hutchinson-Gilford Progeria Syndrome

초록

Hutchinson-Gilford Progeria Syndrome (HGPS; OMIM #176670) is a rare genetic disorder characterized by accelerated aging beginning in infancy. It is primarily caused by a de novo point mutation in the LMNA gene (c.1824C>T; p.G608G), which results in the production of progerin that disrupts nuclear integrity and promotes cellular senescence. The identification of LMNA gene has led to significant advances in targeted therapeutic research in the past 20 years. In this review, we will outline the pathophysiology of HGPS, and discuss the mechanism based therapeutic strategies, including recent approval drug, lonafarnib. We also address the multidisciplinary approach in the comprehensive management of patients with progeria.

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