
bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown
Опубликована: Дек. 17, 2024
Abstract Arrhythmogenic cardiomyopathy (ACM) is a genetic form of heart failure that affects 1 in 5000 people globally and caused by mutations cardiac desmosomal proteins including PKP2, DSP , DSG2. Individuals with ACM suffer from ventricular arrhythmias, sudden death, failure. There are few effective treatments transplantation remains the best option for many affected individuals. Here we performed single nucleus RNA sequencing (snRNAseq) spatial transcriptomics on myocardial samples patients control donors. We identified disease-associated niches characterized co-existence fibrotic inflammatory cell types failing myocytes. The inflammatory-fibrotic niche co-localized to areas myocyte loss was comprised FAP (fibroblast activation protein) POSTN (periostin) expressing fibroblasts macrophages NLRP3 (NLR family pyrin domain containing 3) NFĸB activated genes. Using homozygous Desmoglein-2 mutant ( Dsg2 mut/mut ) mice, analogous populations Postn macrophage within diseased areas. Detailed analysis subsets were increased revealed high levels interleukin-1β Il1b expression. To delineate possible benefit targeting IL-1β ACM, treated mice an anti-IL-1β neutralizing antibody observed attenuated fibrosis, reduced cytokines chemokines, preserved function, diminished conduction slowing automaticity, key mechanisms arrhythmogenesis. These results suggest currently approved therapeutics target or IL-1 signaling may improve outcomes ACM.
Язык: Английский