Mutation-Directed Therapeutics for Neurofibromatosis Type I.
Journal
Molecular therapy. Nucleic acids
ISSN: 2162-2531
Titre abrégé: Mol Ther Nucleic Acids
Pays: United States
ID NLM: 101581621
Informations de publication
Date de publication:
05 Jun 2020
05 Jun 2020
Historique:
received:
06
02
2020
revised:
20
04
2020
accepted:
23
04
2020
pubmed:
15
5
2020
medline:
15
5
2020
entrez:
15
5
2020
Statut:
ppublish
Résumé
Significant advances in biotechnology have led to the development of a number of different mutation-directed therapies. Some of these techniques have matured to a level that has allowed testing in clinical trials, but few have made it to approval by drug-regulatory bodies for the treatment of specific diseases. While there are still various hurdles to be overcome, recent success stories have proven the potential power of mutation-directed therapies and have fueled the hope of finding therapeutics for other genetic disorders. In this review, we summarize the state-of-the-art of various therapeutic approaches and assess their applicability to the genetic disorder neurofibromatosis type I (NF1). NF1 is caused by the loss of function of neurofibromin, a tumor suppressor and downregulator of the Ras signaling pathway. The condition is characterized by a variety of phenotypes and includes symptoms such as skin spots, nervous system tumors, skeletal dysplasia, and others. Hence, depending on the patient, therapeutics may need to target different tissues and cell types. While we also discuss the delivery of therapeutics, in particular via viral vectors and nanoparticles, our main focus is on therapeutic techniques that reconstitute functional neurofibromin, most notably cDNA replacement, CRISPR-based DNA repair, RNA repair, antisense oligonucleotide therapeutics including exon skipping, and nonsense suppression.
Identifiants
pubmed: 32408052
pii: S2162-2531(20)30120-7
doi: 10.1016/j.omtn.2020.04.012
pmc: PMC7225739
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
739-753Informations de copyright
Copyright © 2020. Published by Elsevier Inc.
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