Gene therapy for organic acidemias: Lessons learned from methylmalonic and propionic acidemia.
AAV
CRISPR
MMA
PA
adeno-associated virus
gene therapy
genome editing
homologous recombination
mRNA therapy
methylmalonic acidemia
mouse models
organic acidemia
propionic acidemia
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
02 Aug 2023
02 Aug 2023
Historique:
revised:
26
07
2023
received:
30
06
2023
accepted:
31
07
2023
pubmed:
2
8
2023
medline:
2
8
2023
entrez:
2
8
2023
Statut:
aheadofprint
Résumé
Organic acidemias (OA) are a group of rare autosomal recessive disorders of intermediary metabolism that result in a systemic elevation of organic acid. Despite optimal dietary and cofactor therapy, OA patients still suffer from potentially lethal metabolic instability and experience long-term multisystemic complications. Severely affected patients can benefit from elective liver transplantation, which restores hepatic enzymatic activity, improves metabolic stability, and provides the theoretical basis for the pursuit of gene therapy as a new treatment for patients. Because of the poor outcomes reported in those with OA, especially methylmalonic and propionic acidemia, multiple gene therapy approaches have been explored in relevant animal models. Here, we review the results of gene therapy experiments performed using MMA and PA mouse models to illustrate experimental paradigms that could be applicable for all forms of OA.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHGRI NIH HHS
ID : 1ZIAHG200318-19
Pays : United States
Informations de copyright
Published 2023. This article is a U.S. Government work and is in the public domain in the USA.
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