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

View HTML

View PDF

Please allow Pop-Up for this website to view PDF file.

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 4^th 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/

Related Images:

Recent Images

Quality by Design Based Analytical Method Development and Validation of Sitagliptin Phosphate by RP-HPLC

An Appraisal On Diclofenac and Its Undesirable Effects: From Pain Relief to Systemic Damage

Novel Approach In Treatment of Cholangiocarcinoma: A Review

High Performance Thin Layer Chromatography method for estimation of Rosuvastatin Calcium and Teneligliptin Hydrobromide Hydrate from its tablet dosage form

Formulation, Development and Evaluation of NDDS Formulation for Treatment of Parkinson’s Disease

A Systematic Review of Cyperus rotundus Linn as an Massive Source of Pharmacologically Active Phyto-Medicine

Miraculous Moringa: A Comprehensive Explanation of its Botanical, Nutritional and Medicinal Potentials

Phytochemical Screening, Formulation and Evaluation of Leaf Extract of Leucas aspera and Leucas indica by Using Analytical Methods

RPHPLC Method for Concurrent Determination of Haloperidol and Trihexyphenidyl in API and Combined Tablet Formulations

A review on HPLC Methods for Estimation of Travoprost in Combined and Single Pharmaceutical formulation and Bulk

Recomonded Articles:

Delonix regia (Gulmohar) – A Review Author(s): Bhagyashri C. Patel; Sandhya R. Chavhan; H.P. Suryawanshi; R. A. Ahirrao DOI: Access: Open Access Read More
Effectiveness of Various Stain Removal Methods: A Comparative Study Author(s): Mr. Pawar Jaydeep*; Mr. Yalse Manoj; Mr. Sonawane Sumit; Miss. Vasave Vibhuti. DOI: https://doi.org/10.71431/IJRPAS.2025.4309 Access: Open Access Read More
Formulation and Evaluation of Antibacterial Polyherbal Paper Soap Author(s): Pravin V. Gomase; R. R. Patil; Sunil P. Pawar DOI: NA Access: Open Access Read More
Exploring Traditional Formulations in Unani Medicine: A Comprehensive Review Author(s): Kamil Hafiz Anees Ahmed Quazi; Dr. Majaz Quazi; Wasil Jalees Quazi; Dr. G. J. Khan. DOI: Access: Open Access Read More
Fast Dissolving Oral Films: A Review Author(s): Hasanen Pinjari; Rehan Deshmukh; Khan Faizan; Dr. Gulam Javed. DOI: Access: Open Access Read More
Solubility Enhancement of Nevirapine by Solid Dispersion Technique Author(s): Shaikh Aminoddin Raisoddin; Shifa Maniya; Sayeeda Begum; Naziya Shaikh. DOI: Access: Open Access Read More
Simultaneous UV Spectrophotometric Analysis of Paracetamol and Ibuprofen in an Ethanol–NaoH Solvent System Author(s): Magendran Rajendiran1*, Muruganand R2, Abhisek Kumar Sinha2, Mohamed Raashith M S2, Jasitha Begam M2, Usharani G2, Dhivyari D2, Deepika T2 DOI: https://doi.org/10.71431/IJRPAS.2025.4413 Access: Open Access Read More
A Comprehensive Review of Ipomoea carnea: Botanical, Ecological and Medicinal Perspective Author(s): Soni Rishita1*, Salunke Khushi1, Patel Harsh1, Patel Aastha1, Taufik Mulla2, Ambika Nand Jha3 DOI: Access: Open Access Read More
A Review of the Pharmacological, Phytochemical, and Ethnomedicinal Applications of Ficus Benghalensis L. (Banyan Tree) Author(s): Shah Kaunen; Pathan Ahemad; Shah Sahil; Khatik Ali; Abdul Kashif; Abu Asim Azmi DOI: Access: Open Access Read More
Artemisia: A Promising Herbal Approach for The Treatment of Cancer Author(s): Harshadeep Seal; Namrata Koushik DOI: Access: Open Access Read More
Impact of Vata Dosha on Nervous System: An Ayurvedic Analysis Author(s): Dr. Sonutai Madhavrao Shinde DOI: Access: Open Access Read More
Nanoscale Navigation: A Review On Transfersomes for Transdermal Drug Delivery Author(s): Girisha Chaudhari;Sofiya Morris; Dr. Ashish Jain DOI: Access: Open Access Read More
A Brief Review on Stability testing of Eye Drop Author(s): Sarang Chavan; Dr. Gulam Javed Khan DOI: Access: Open Access Read More
Formulation and Evaluation of Acne Control Daily Herbal Facewash Author(s): Mehul P. Bagde; Mukesh Rajpurohit; Lalit Chaudhary DOI: Access: Closed Access Read More
A brief review on: Palash (Butea monosperma lam. Kuntz.) Author(s): Lilachand B. Patil; Khushal K. Chaudhari; Eknath Jagannath Patil DOI: Access: Open Access Read More
A Comparative Study of Ferrous Ascorbate and Ferrous Fumarate in Treating Iron Deficiency Anaemia during Pregnancy: Efficacy and Safety analysis Author(s): Mudigonda Sowjanya*; Nishad, Fariya; Malla Rajeshwari; Dr. K. Lakshmi Surekha DOI: Access: Open Access Read More
A Comprehensive Review of Melt Sonocrystallization: Mechanisms, Applications, and Future perspectives Author(s): Devadatta Pandurang Hatim; Sachinkumar V. Patil; Sachin Mali DOI: Access: Open Access Read More
Effervescent Tablets Author(s): Mohammad Vakar*; Shaikh Imran Kalam; Dr. G.J. Khan; M Sohil M Shabbir; Aman Shaikh; Shaikh Md. Moiz DOI: Access: Open Access Read More
The Impact of Dairy Products On PCOS: A Review Author(s): Moyeda Asha jyothi*; Gollapalli Surendra kumar; Atru Naga Swarna; Dr. Ch.P.S.R. Madhuri; Dr. G. Sumalatha DOI: https://doi.org/10.71431/IJRPAS.2025.4205 Access: Open Access Read More
Formulation and Evaluation of Herbal Hand Sanitizer Gel from Oragano Oil Author(s): Kishor S. Rathi*; Diksha S. Bramhane; Chetana A. Karankal , Dr. Ravindra R. Patil DOI: Access: Open Access Read More