Thursday , 27 June 2019

Progeria: A Genetic and Rare Disease

Anitha Nandagopal*, Naaz Nazmeen, Firdous Afshan, Anupama Koneru
Department of Pharmacology, Sultan-ul-Uloom College of Pharmacy, Road no.3, Banjara Hills, Hyderabad, Telangana-500034.

ABSTRACT
Hutchinson Gilford Progeria Syndrome is an extremely serious disorder characterized by rapid, premature ageing of children which can precipitate cardiovascular diseases. Progeria is caused by de novo mutation in Lamin A gene which activates splicing in donor site, resulting in short, mutant protein called as “Progerin”. Generally, Lamin A is produced by detachment of 15 amino acids and farnesyl group from prelamin A. But in progeria, farnesyl group is not removed from prelamin A due to this the nuclear envelope becomes stiff. This condition is called nuclear blebbing which is a discrete feature of progeria. In affected individuals the rate of ageing is increased by 7 times that of normal. It is extensively anticipated that presence of progerin but not due to change in mature lamin A is the principle reason leading to progeria. Treatment includes farnesyl transferase inhibitors, statins, rapamycin, amino bis phosphonates and zoledronic acid. Abnormal physiology of progeria nuclei might cause DNA damage build up in progerial cells along with cellular attrition. This problem is deteriorated when the function of human mesenchymal stem cells is blocked, it will lead to change in their distinction ability and molecular identity. Thus if normal stem cells are injected into blood circulation of progerial patient may be helpful to generate normal stem cell pool. This normal cell will compete with progerial stem cells and thus healthy cells will be grown which may serve as ultimate cure.

Keywords: Progeria disease, Lamin A gene, Progerin, nuclear blebbing, farnesyl transferase inhibitors.

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