Hutchinson-Gilford syndrome: History, causes, phenotype and research advances

Abstract

Hutchinson-Gilford Progeria Syndrome (HGPS) (Phenotype MIM number 176670) is an autosomal-dominant genetic disorder that leads to accelerated aging and often premature death caused by cardiovascular complications. HGPS is origined by an abnormal Lamin A formation, directly caused by a mutation in exon 11 of the LMNA gene. This syndrome is characterized by the presence of aging-associated symptoms, including lack of subcutaneous fat, alopecia, growth retardation, skin pigmentation, joint contractures, osteoporosis, cardiovascular pathologies, and death due to myocardial infarction and strokes in childhood. Aim of this literature review was to document the history, symptomatology and advances in the development of treatment strategies for HGPS. Until now, clinical management of HGPS has been largely based on treatment of the manifestations and prevention of secondary complications, and there is still no cure for the disease. Although copious barriers remain to be overcome before a cure for HGPS can be developed, the increasing understanding of the molecular mechanism of the disease will allow better treatment strategies to be designed in the future.