TY - JOUR
T1 - Mitochondrial microRNAs Are Dysregulated in Patients with Fabry Disease
AU - Gambardella, Jessica
AU - Fiordelisi, Antonella
AU - Sorriento, Daniela
AU - Cerasuolo, Federica
AU - Buonaiuto, Antonietta
AU - Avvisato, Roberta
AU - Pisani, Antonio
AU - Varzideh, Fahimeh
AU - Riccio, Eleonora
AU - Santulli, Gaetano
AU - Iaccarino, Guido
N1 - Publisher Copyright:
© 2022 by The American Society for Pharmacology and Experimental Therapeutics.
PY - 2023/1/1
Y1 - 2023/1/1
N2 - 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.
AB - 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.
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U2 - 10.1124/jpet.122.001250
DO - 10.1124/jpet.122.001250
M3 - Article
C2 - 35764328
AN - SCOPUS:85140465491
SN - 0022-3565
VL - 384
SP - 72
EP - 78
JO - Journal of Pharmacology and Experimental Therapeutics
JF - Journal of Pharmacology and Experimental Therapeutics
IS - 1
ER -