Genetic technology in the targeted therapy of Alport Syndrome
DOI:
https://doi.org/10.12775/QS.2025.38.57941Keywords
Alport, syndrome, genetic, therapy, CRISPR/Cas9, exon-skipping, premature termination codon readthrough, anti-miRNA-21 oligonucleotides, protein replacement, pharmacological chaperones, X-chromosomeAbstract
Introduction and aim of the study: Alport syndrome is the most common inherited chronic kidney disease, with three distinct patterns of inheritance: X-linked, autosomal, and digenic. Currently, there is no curative treatment for Alport syndrome. This review aims to provide updated knowledge about Alport syndrome, including its clinical and genetic characteristics and therapies that slow disease progression.
Material and Methods: A systematic literature search was conducted using PubMed and Google Scholar, with the following keywords: "gene," "therapy," "Alport," and "syndrome."
Description of the state of knowledge: Gene therapy, which uses genetic material to prevent or treat diseases, offers promising prospects for Alport syndrome. The results of the metaanalysis suggest that gene editing by CRISPR/Cas9, exon-skipping using an antisense-oligonucleotide, premature termination codon readthrough, anti-miRNA-21 oligonucleotides, protein replacement, pharmacological chaperones and X-chromosome reactivation therapies are a feasible approach for some patients with Alport syndrome.
Summary: Targeting defective collagen chains early in the disease through gene therapy may have the greatest potential to reverse this disorder. Therefore, we strongly believe Alport syndrome will become a treatable condition in the near future using gene editing techniques.
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