Hutchinson–Gilford Progeria Syndrome (HGPS) is an ultra-rare human premature aging disorder that precipitates death because of cardiac disease. Almost all cases of HGPS are caused by aberrant splicing of the LMNA gene that results in the production of a mutant Lamin A protein termed progerin. In our previous study, treatment with Progerinin has been shown to reduce progerin expression and improve aging phenotypes in vitro and in vivo HGPS models. In this record, cardiac parameters (stroke volume (SV), ejection fraction (EF), fractional shortening (FS), etc.) were acquired in LmnaWT/WT and LmnaG609G/WT mice fed with either a vehicle diet or a Progerinin diet by echocardiography (from 38 weeks to 50 weeks at various ages), and then the cardiac function was analyzed. We also acquired the tissue samples and blood serum of LmnaWT/WT and LmnaG609G/WT mice for pathological analysis at the end of echocardiography. From these data, we suggest that the administration of Progerinin in the HGPS model mouse can restore cardiac function and correct arterial abnormalities. These observations provide encouraging evidence for the efficacy of Progerinin for cardiac dysfunction in HGPS.

Hutchison-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder caused by the mutant protein progerin, which is expressed by the abnormal splicing of LMNA gene. HGPS affects systemic levels, except cognition or brain development in children, showing that cellular aging can occur in the short term. However, the causes of aging that humanity is working to overcome remain poorly understood. Studying progeria could be useful for unraveling the causes of human aging (as well as fatal age-related disorders). Elucidating the clear cause of HGPS or the development of a therapeutic medicine will provide inconceivable comfort for young patients and enable them to live a normal life. This review aimed to: i) briefly describe how progerin was discovered as the causative agent of HGPS, ii) elucidate the puzzling observation of the absence of primary neurological disease in HGPS, iii) present several studies showing the deleterious effects of progerin and the beneficial effects of its inhibition, and iv) summarize research to develop a therapy for HGPS, and introduce clinical trials for its treatment.