Alan Nurden: Targeting Splice Site Variants in Alport Syndrome with Antisense Therapy
Alan Nurden, Emeritus Research Director at CNRS, Co-Founder of the French National Reference Centre for Inherited Platelet Disorders (CRPP), shared a post on LinkedIn about a recent article by Hassan Saei et al, published in JCI Insight:
“The Alport syndrome is an X-linked nephropathy with defective formation of the basement membrane due to reduced collagen IV expression.
In this impressive study from Paris, Hassan Saei and his colleagues use patient-derived cells and IPS-derived kidney organoids to show how the use of of antisense oligonucleotides can override the effect of splice site variations of the Coll4A5 gene and restore alpha5(IV) synthesis.
The paper is a model that has huge therapeutic implications for patients with rare diseases caused by monogenic splice site mutations including variants deep with introns.
I would like to bring it to the attention of workers in the field of rare inherited bleeding disorders.
This manuscript is highly recommended.”
Title: Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome
Authors: Hassan Saei, Bruno Estebe, Nicolas Goudin, Mahsa Esmailpour, Julie Haure, Olivier Gribouval, Christelle Arrondel, Vincent Moriniere, Pinyuan Tian, Rachel Lennon, Corinne Antignac, Geraldine Mollet, Guillaume Dorval
Read the Full Article on JCI Insight
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