Inflammation and Exosomes in Fabry Disease Pathogenesis.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

Original Publication: Basel, Switzerland : MDPI

Fabry Disease*/genetics ; Fabry Disease*/metabolism ; Fabry Disease*/pathology ; Inflammation*/pathology ; Exosomes*/metabolism; Humans ; Animals ; Extracellular Vesicles/metabolism

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.

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MRC_180321 Amicus Therapeutics (United Kingdom); HfPT - Health from Portugal Component C5 - Capitalisation and Business Innovation, under the Portuguese Resilience and Recovery Plan, through the NextGenerationEU Fund.; UIDB/50026/2020 (DOI 10.54499/UIDB/50026/2020) Foundation for Science and Technology (FCT); UIDP/50026/2020 (DOI 10.54499/UIDP/50026/2020) Foundation for Science and Technology (FCT); LA/P/0050/2020 (DOI 10.54499/LA/P/0050/2020) Foundation for Science and Technology (FCT); DL57/2016/CP1377/CT0072 (DOI: 10.54499/DL57/2016/CP1377/CT0072) Foundation for Science and Technology (FCT); 2023.04302.BD Foundation for Science and Technology (FCT)

Keywords: Fabry Disease; extracellular vesicles; inflammation

Date Created: 20240426 Date Completed: 20240426 Latest Revision: 20240515

20240516

PMC11049543

10.3390/cells13080654

38667269