Hutchinson-Gilford progeria syndrome, or progeria, in short, is a rare genetic condition that causes premature ageing. As a result of which children with progeria looks much older than they are. Children with the disease often suffer from heart failure, heart attack or stroke as teenagers and die. Recently, The U.S. Food and Drug Administration has approved a drug, called Zokinvy, made by the company Eiger BioPharmaceuticals. So far, It is the first and the only approved treatment for progeria and related syndromes. The clinical trials include 62 children who received the drug, Zokinvy, resulting in the increased life span by around 3-months. The children who kept taking up Zokinvy for 11 years have increased their life spans by about 2.5 years on an average. The disease results from a single mutation in an individual's genetic code (SN: 2/7/13). The mutation alters a gene responsible for making the protein lamin A. The protein helps in holding cell nuclei together. But children with progeria accumulates a defective protein called progerin, a similar version of lamin A. Due to the different structural conformation, the protein remains in cell membranes as a result of which it cannot be replaced with new proteins, causing the cells to age prematurely.
The fact that all biological cells produce progerin, but the amount of the protein produced gets higher as we get older. Generally, children appear normal at birth and start showing signs of sickness in the first two years. Children with the illness experience hair loss, joint stiffness, cardiovascular disease and other symptoms of the ageing process. The drug is not the cure to the disease, but to lengthen the lifespan of an individual with progeria.
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