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Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.

ABSTRACT: Glycogen storage disease type Ia (GSDIa) is an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α). Affected individuals develop renal and liver complications, including the development of hepatocellular adenoma/carcinoma and kidney failure. The purpose of this study was to identify potential biomarkers of the evolution of the disease in GSDIa patients. To this end, we analyzed the expression of exosomal microRNAs (Exo-miRs) in the plasma exosomes of 45 patients aged 6 to 63 years. Plasma from age-matched normal individuals were used as controls. We found that the altered expression of several Exo-miRs correlates with the pathologic state of the patients and might help to monitor the progression of the disease and the development of late GSDIa-associated complications.

SUBMITTER: Resaz R 

PROVIDER: S-EPMC8745197 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.

Resaz Roberta R   Cangelosi Davide D   Segalerba Daniela D   Morini Martina M   Uva Paolo P   Bosco Maria Carla MC   Banderali Giuseppe G   Estrella Ana A   Wanner Corbinian C   Weinstein David A DA   Sechi Annalisa A   Paci Sabrina S   Melis Daniela D   Di Rocco Maja M   Lee Young Mok YM   Eva Alessandra A  

International journal of molecular sciences 20211228 1

Glycogen storage disease type Ia (GSDIa) is an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α). Affected individuals develop renal and liver complications, including the development of hepatocellular adenoma/carcinoma and kidney failure. The purpose of this study was to identify potential biomarkers of the evolution of the disease in GSDIa patients. To this end, we analyzed the expression of exosomal microRNAs (Exo-miRs) in the plasma exosomes of  ...[more]

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