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INTERNATIONAL JOURNAL OF PHARMACEUTICAL RESEARCH

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IJPR included in UGC-Approved List of Journals - Ref. No. is SL. No. 4812 & J. No. 63703

Published by : Advanced Scientific Research
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0975-2366
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IJPR 9[3] July - September 2017 Special Issue

July - September 9[3] 2017

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Premature ageing in children: a rare genetic disorder called progeria.

Author: ANANDU H, AADHARSA SUGUNAN, ANILA KN, GAYATHRI VASANTHA SASIDHARAN NAIR
Abstract: Progeria is a type of progeroid syndrome characterized by premature ageing. It is a rare sporadic autosomal dominant point mutation at the 1824 position of the LMNA gene which codes for the LMNA protein, leading to the accumulation of the abnormal protein called Progerin. Normally the LMNA protein undergoes a series of processes catalyzed by Farnesyl Transferase, resulting in the formation of Lamin A. Lamin A along with Lamin B and Lamin C constitutes the lamina of the nucleus. In this medical condition, patients clinically manifest with alopecia, wrinkled skin, limited growth, ultimately leading to death due to cerebrovascular and cardiac problems. There is no approved drug regimen for this condition till date, so it is necessary to treat the symptoms and complications associated with progeria. It can be improved using low dose aspirin (to treat cardiovascular risks), physical therapy and occupational therapy (to improve the lifestyle), hydrotherapy (for improving joint mobility) and gastrotomy tube (for nutritional improvement). The clinical trials of various drugs for the management of progeria are still progressing. Drug combination regimens with Rapamycin, Pravastatin and Zoledronic acid are still in its various phases of clinical trials. Lonafarnib, a Farnesyl Transferase Inhibitor was found to be effective in progeria candidates.
Keyword: Progeria, Hydrotherapy, FTI, Rapamycin, Pravastatin and Zoledronic acid.
DOI: https://doi.org/10.31838/ijpr/2020.12.03.005
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0.12
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