Hutchinson Gilford Syndrome

Decent Essays
Progeria is the World’s leading cause of children death because, Progeria is a fast-paced disease the disease has many symptoms and signs, and the treatments are very minimal. This disease is the saddest disease i have seen or heard of in years. Hutchinson Gilford Syndrome or otherwise commonly known as Progeria; is a fatal disease. Sadly, death occurs in every case. This disease is a fast spreading disease in the body, it affects the body almost instantaneously.This disease is a rapid aging disorder caused by a LMNA anomaly. This anomaly release progerin, a mutant lamin. The lamin A/C is the official name of the gene more widely known as LMNA. The gene gives out a designated list of tasks to making different proteins called lamins. The infected cells show a decrease in heterochromatin, a increased amount a deoxyribonucleic acid, and cell cycle changes. Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease that affects the skin, musculoskeletal system, and vasculature. HGPS is characterized by signs of premature aging(Kara N Shah,HGPS, MedScape)
The recognition of the illness is based on common features and a detection of heterozygous LMNA pathogenic variants. Some of the symptoms are stiff joints, fragile bones, hip dislocation, insulin resistance, some hearing loss, loss of fat and muscle mass,
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Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, has proven effective for Progeria. Every child showing improvement in one or more of four ways: gaining additional weight, better hearing, improved bone structure and/or, most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation, were published September 24, 2012 in Proceedings of the National Academy of Sciences(no author, first treatment
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