期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 23, 期 1, 页码 -出版社
MDPI
DOI: 10.3390/ijms23010328
关键词
microRNA; exosomes; GSDIa; liver; kidney; hepatocellular adenoma; biomarkers
This study analyzed the expression of exosomal microRNAs in the plasma of glycogen storage disease type Ia patients, and found that altered expression of several microRNAs correlates with the pathological state of the patients, potentially serving as biomarkers for monitoring disease progression and the development of late complications.
Glycogen storage disease type Ia (GSDIa) is an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-alpha (G6Pase-alpha). 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.
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