Inflammation and Exosomes in Fabry Disease Pathogenesis.
Bruna Coelho-RibeiroHelena G SilvaBelém Sampaio-MarquesAlexandra Gabriel FragaOlga AzevedoJorge PedrosaPaula LudovicoPublished in: Cells (2024)
Fabry Disease (FD) is one of the most prevalent lysosomal storage disorders, resulting from mutations in the GLA gene located on the X chromosome. This genetic mutation triggers glo-botriaosylceramide (Gb-3) buildup within lysosomes, ultimately impairing cellular functions. Given the role of lysosomes in immune cell physiology, FD has been suggested to have a profound impact on immunological responses. During the past years, research has been focusing on this topic, and pooled evidence strengthens the hypothesis that Gb-3 accumulation potentiates the production of pro-inflammatory mediators, revealing the existence of an acute inflammatory process in FD that possibly develops to a chronic state due to stimulus persistency. In parallel, extracellular vesicles (EVs) have gained attention due to their function as intercellular communicators. Considering EVs' capacity to convey cargo from parent to distant cells, they emerge as potential inflammatory intermediaries capable of transporting cytokines and other immunomodulatory molecules. In this review, we revisit the evidence underlying the association between FD and altered immune responses and explore the potential of EVs to function as inflammatory vehicles.
Keyphrases
- oxidative stress
- immune response
- induced apoptosis
- copy number
- replacement therapy
- genome wide
- cell cycle arrest
- lymph node
- working memory
- human health
- intellectual disability
- randomized controlled trial
- heart failure
- clinical trial
- cell death
- respiratory failure
- dendritic cells
- gene expression
- dna methylation
- left ventricular
- signaling pathway
- autism spectrum disorder
- smoking cessation
- cell adhesion