Research Project

Project Title:

Role of autophagy in glycogen storage disease type 1b: new perspectives on pathogenesis and treatment

Project Type:

Translational research

Disease group(s):

Metabolic & stone disorders

Project Summary:

Glycogen storage disease type Ib (GSD Ib) is an autosomal recessive disorder characterized by hypoglycaemia, excessive glycogen accumulation in liver and kidneys, neutropenia and neutrophil dysfunction. GSD Ib is caused by mutations in the SLC37A4 gene, which codifies the ubiquitously expressed glucose-6-phosphate transporter (G6PT). The molecular mechanisms underlying these dysfunctions and their relationship with G6PT defective functions are not completely understood. Recently, it has been shown that G6PT is an activator of the autophagic flux. Autophagy is a catabolic process by which cells degrade and recycle unneeded or damaged intracellular components including glycogen. Our hypothesis is that autophagy is altered in GSD Ib and that its modulation can favour the elimination of glycogen deposits.

Lead principal investigator(s):

Laura Rita Rega, Rome


Francesco Emma, Rome
Francesco Bellomo, Rome

Project Period:

01/2022   -   12/2022

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