An update on Hutchinson-Gilford progeria syndrome: a review of the current state of knowledge in Genetic Etiology, Molecular Pathogenesis, and Emerging Treatment Strategies

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by a premature aging system, which leads to death before 14.6 years due to cardiovascular complications and heart failure. HGPS is connected to the mutation of the LMNA gene encoding the intermediate filament protein lamin A. The most significant genetic connection between Progeria and aging is that telomere shortening ends with every replication cycle. Patients experience severe vascular alterations, mainly loss of muscular smooth muscle cells, calcification, fibrosis, generalized atherosclerosis, and electrical, structural, and functional exceptions in the heart. Unfortunately, treatment is not available for HGPS patients; therefore, scientists are trying to define the molecular mechanism of HGPS that will be helpful for the identification of new treatments and the development of the quality of the patients' lives. This review discusses the current knowledge about the disease, cellular mechanisms, DNA damage, and treatment approaches for patients affected with HGPS.