International Journal of Research in Pharmacy and Allied Science

ISSN: 2583-6544   |  Issues per year: Monthly  |   Indexed In: Google Scholar, CORE, ScienceOpen, Researchgate

ISSN:2583-6544

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Progeria: A rare Genetic Disorder

Author(s): Sayed Saziya F1, Khan Afreen2, Bushra Fatema3, Choudary Sumaiya4

Email(s): 1s.saziya003@gmail.com

Address:

    J.I.I.U’S Ali-Allana College of Pharmacy Akkalkuwa, Dist- Nandurbar (425415) Maharashtra, India.

Published In:   Volume - 3,      Issue - 1,     Year - 2024

DOI: Not Available

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ABSTRACT:
Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Various experimental models, both in vivo and in vitro, have been developed in an effort to understand the cellular and molecular basis of a number of clinically heterogeneous rare genetic disorders that come under the umbrella of progeroid syndromes (PSs). As per the latest clinical trial reports, Lonafarnib, a farnesyl tranferase inhibitor, is a potent ‘drug of hope’ for Hutchinson-Gilford progeria syndrome (HGPS) and has been successful in facilitating weight gain and improving cardiovascular and skeletal pathologies in progeroid children. This can be considered as the dawn of a new era in progeria research and thus, an apt time to review the research developments in this area highlighting the molecular aspects, experimental models, promising drugs in trial and their implications to gain a better understanding of PSs.

Keywords:

Cite this article:
Sayed Saziya F., Khan Afreen, Bushra Fatema, Choudary Sumaiya. Progeria: A rare Genetic Disorder. IJRPAS, 2024; 3(1): 71-76.


1.    Gordon, LB. The Premature Aging Syndrome Hutchinson-Gilford Progeria : Insights               into Normal Aging in: Brocklehurst’s Textbook of Geriatric Medicine and Gerontology, Seventh Edition. 2010: page no:66-72.

2.    What Is Progeria a.k.a. Hutchinson-Gilford Progeria         Syndrome (HGPS)? Dr. Hakim. K. Saboowala. 1 May 2016. Page no :09-20.

3.    Hutchinson-Gilford Progeria Syndrome Frequently Asked Questions. Progeria Research Foundation. Updated October 2020. Available at https://www.progeriaresearch.org/progeria-101faq/ Accessed December 23, 2020.

4.English-Progeria-Handbook-Edition-2.pdf. Updated March 2019. Available at https://www.progeriaresearch.org/patient-care-and-handbook/

5. Hutchinson-Gilford Progeria Syndrome. NORD Org. Updated 4th January, 2021. Available at https://rarediseases.org/

6.    Leslie B. Gordon, Monica E. Kleinman, David T. Miller and Mark W. Kieran. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome. Updated September 24, 2012 . Available at https://doi.org/10.1073/pnas.1202529109

7.    https://www.pnas.org/

8.    Small-Molecule Therapeutic Perspectives for the Treatment of Progeria. Jon Macicior, Beatriz Marcos-Ramiro, and Silvia Ortega-Gutiérrez. Published on Jul 3, 2021. Available at https://www.ncbi.nlm.nih.gov/

9.    www.progeriaresearchfoundation.com

10.    Progeria: A rare genetic premature ageing disorder , Jitendra Kumar Sinha, Shampa Ghosh, and Manchala R., 2014 May, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140030/

 

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