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Lookup NU author(s): Dr Nisreen Al-NamnamORCiD
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Apert syndrome is a genetic disorder characterized by craniosynostosis and structural discrepancy of the craniofacial region as well as the hands and feet. This condition is closely linked with fibroblast growth factor receptor-2 (FGFR2) gene mutations. Gene therapies are progressively being tested in advanced clinical trials, leading to a rise of its potential clinical indications. In recent years, research has made great progress in the gene therapy of craniosynostosis syndromes and several studies have investigated its influences in preventing/diminishing the complications of Apert syndrome. This article reviewed and exhibited different techniques of gene therapy and their influences in Apert syndrome progression. A systematic search was executed using electronic bibliographic databases including PubMed, EMBASE, ScienceDirect, SciFinder and Web of Science for all studies of gene therapy for Apert syndrome. The primary outcomes measurements vary from protein to gene expressions. According to the findings of included studies, we conclude that the gene therapy using FGF in Apert syndrome was critical in the regulation of suture fusion and patency, occurred via alterations in cellular proliferation. The superior outcome could be brought by biological therapies targeting the FGF/FGFR signalling. More studies in molecular genetics in Apert syndrome are recommended. This study reviews the current literature and provides insights to future possibilities of genetic therapy as intervention in Apert syndrome.
Author(s): Al-Namnam NM, Jayash SN, Hariri F, Rahman ZA, Alshawsh MA
Publication type: Article
Publication status: Published
Journal: Gene Therapy
Year: 2021
Volume: 28
Pages: 620–633
Print publication date: 01/11/2021
Online publication date: 22/02/2021
Acceptance date: 03/02/2021
ISSN (print): 0969-7128
ISSN (electronic): 1476-5462
Publisher: Nature Publishing Group
URL: https://doi.org/10.1038/s41434-021-00238-w
DOI: 10.1038/s41434-021-00238-w
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