title: Progeria: a rare genetic premature ageing disorder.
abstract: Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Various experimental models, both in vivo and in vitro, have been developed in an effort to understand the cellular and molecular basis of a number of clinically heterogeneous rare genetic disorders that come under the umbrella of progeroid syndromes (PSs). As per the latest clinical trial reports, Lonafarnib, a farnesyltranferase inhibitor, is a potent 'drug of hope' for Hutchinson-Gilford progeria syndrome (HGPS) and has been successful in facilitating weight gain and improving cardiovascular and skeletal pathologies in progeroid children. This can be considered as the dawn of a new era in progeria research and thus, an apt time to review the research developments in this area highlighting the molecular aspects, experimental models, promising drugs in trial and their implications to gain a better understanding of PSs.
authors.forename: Jitendra Kumar
authors.initials: JK
authors.lastname: Sinha
authors.forename: Shampa
authors.initials: S
authors.lastname: Ghosh
authors.affiliation: Endocrinology & Metabolism Division, National Institute of Nutrition (ICMR), Hyderabad, India.
authors.forename: Manchala
authors.initials: M
authors.lastname: Raghunath
mesh_terms: D000375:Aging / Q000235:genetics / Q000473:pathology*; D002648:Child; D002986:Clinical Trials as Topic; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008136:Longevity / Q000235:genetics; D009154:Mutation; D010880:Piperidines / Q000627:therapeutic use; D054876:Prenylation; D011371:Progeria / Q000235:genetics / Q000473:pathology*; D011725:Pyridines / Q000627:therapeutic use; D035583:Rare Diseases / Q000235:genetics / Q000473:pathology*; D003986:Dibenzocycloheptenes
chemical_list: D034904:Lamin Type A; D010880:Piperidines; D011725:Pyridines; C494847:LMNA protein, human; C115354:lonafarnib; D003986:Dibenzocycloheptenes