Language

English

Publication Date

8-25-2023

Journal

Science Advances

DOI

10.1126/sciadv.adi2767

PMID

37624892

PMCID

PMC10456852

PubMedCentral® Posted Date

8-25-2023

PubMedCentral® Full Text Version

Post-print

Abstract

Mitochondrial permeability transition pore (MPTP) formation contributes to ischemia-reperfusion injury in the heart and several degenerative diseases, including muscular dystrophy (MD). MD is a family of genetic disorders characterized by progressive muscle necrosis and premature death. It has been proposed that the MPTP has two molecular components, the adenine nucleotide translocase (ANT) family of proteins and an unknown component that requires the chaperone cyclophilin D (CypD) to activate. This model was examined in vivo by deleting the gene encoding ANT1 (Slc25a4) or CypD (Ppif) in a δ-sarcoglycan (Sgcd) gene–deleted mouse model of MD, revealing that dystrophic mice lacking Slc25a4 were partially protected from cell death and MD pathology. Dystrophic mice lacking both Slc25a4 and Ppif together were almost completely protected from necrotic cell death and MD disease. This study provides direct evidence that ANT1 and CypD are required MPTP components governing in vivo cell death, suggesting a previously unrecognized therapeutic approach in MD and other necrotic diseases.

Keywords

Animals, Mice, Muscular Dystrophies, Necrosis, Cell Death, Peptidyl-Prolyl Isomerase F, Disease Models, Animal

Published Open-Access

yes

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