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Best Paper Award :
Dr. Dhrubo Jyoti Sen
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Abstract

PROGERIA OR HUTCHINSON-GILFORD PROGERIA SYNDROME [HGPS]: A REVIEW

*B. Prasanna Kumar, D. Lakshman Chaturvedhi, U. Sai Prasad, A. Rajasekhar and Dr. D. R. Rama Brahma Reddy

Abstract

Progeria (or) Hutchinson-Gilford Progeria syndrome (HGPS) is an aberrant lethal congenital disorder characterized by mimic in premature ageing in children. It is clinically a heterogenous rare genetic disorder that comes under progeroid syndromes (PS). Several features of premature ageing like growth retardation, characteristic facies, alopecia and loss of subcutaneous fat, restricted joint mobility, prominent eyes and severe premature atherosclerosis, osteolysis. Intelligence is not impaired. All of the children suffering from the disease appear identical. Approximately 90% of the HGPS patients have an identical de novo dominant recurrent truncating mutation in paternal allele of the LMNA gene. As per the latest clinical trail reports, LONAFARNIB a farnesyltransferase inhibitor is a potent ‘drug of hope’ for HGPS and has been successful in weight gain and improving cardiovascular and skeletal pathologies in progeroid children.

Keywords: Hutchinson-Gilford progeria syndrome, premature ageing, LMNA gene mutation, LONAFARNIB.


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