Review Article

Hutchinson-Gilford Progeria Syndrome: An Overview of the Molecular Mechanism, Pathophysiology and Therapeutic Approach

Author(s): Md. Mominur Rahman, Kazi Sayma Ferdous, Muniruddin Ahmed, Mohammad Touhidul Islam, Md. Robin Khan, Asma Perveen, Ghulam Md. Ashraf and Md. Sahab Uddin*

Volume 21 , Issue 3 , 2021

Published on: 03 March, 2021

Page: [216 - 229] Pages: 14

DOI: 10.2174/1566523221666210303100805

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Abstract

Lamin A/C encoded by the LMNA gene is an essential component for maintaining the nuclear structure. Mutation in the lamin A/C leads to a group of inherited disorders is known as laminopathies. In the human body, there are several mutations in the LMNA gene that have been identified. It can affect diverse organs or tissues or can be systemic, causing different diseases. In this review, we mainly focused on one of the most severe laminopathies, Hutchinson-Gilford progeria syndrome (HGPS). HGPS is an immensely uncommon, deadly, metameric ill-timed laminopathies caused by the abnormal splicing of the LMNA gene and production of an aberrant protein known as progerin. Here, we also presented the currently available data on the molecular mechanism, pathophysiology, available treatment, and future approaches to this deadly disease. Due to the production of progerin, an abnormal protein leads to an abnormality in nuclear structure, defects in DNA repair, shortening of telomere, and impairment in gene regulation which ultimately results in aging in the early stage of life. Now some treatment options are available for this disease, but a proper understanding of the molecular mechanism of this disease will help to develop a more appropriate treatment which makes it an emerging area of research.

Keywords: Progeria, progerin, Hutchinson-Gilford progeria syndrome, Lamin A/C, LMNA, gene regulation.

Graphical Abstract

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