Mitochondrial microRNAs Are Dysregulated in Patients with Fabry Disease

Jessica Gambardella, Antonella Fiordelisi, Daniela Sorriento, Federica Cerasuolo, Antonietta Buonaiuto, Roberta Avvisato, Antonio Pisani, Fahimeh Varzideh, Eleonora Riccio, Gaetano Santulli, Guido Iaccarino

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the gene for a-galactosidase A, inducing a progressive accumulation of globotriaosylceramide (GB3) and its metabolites in different organs and tissues. GB3 deposition does not fully explain the clinical manifestations of FD, and other pathogenetic mechanisms have been proposed, requiring the identification of new biomarkers for monitoring FD patients. Emerging evidence suggests the involvement of mitochondrial alterations in FD. Here, we propose mitochondrial-related microRNAs (miRs) as potential biomarkers of mitochondrial involvement in FD. Indeed, we demonstate that miRs regulating different aspects of mitochondrial homeostasis including expression and assembly of respiratory chain, mitogenesis, antioxidant capacity, and apoptosis are consistently dysregulated in FD patients. Our data unveil a novel noncoding RNA signature of FD patients, indicating mitochondrial- related miRs as new potential pathogenic players and biomarkers in FD.

Original languageEnglish (US)
Pages (from-to)72-78
Number of pages7
JournalJournal of Pharmacology and Experimental Therapeutics
Issue number1
StatePublished - Jan 1 2023

ASJC Scopus subject areas

  • Molecular Medicine
  • Pharmacology


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