Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.

ABSTRACT:

Background

Limb-girdle muscular dystrophy R1 calpain 3-related (LGMDR1) is an autosomal recessive muscular dystrophy due to mutations in the CAPN3 gene. While the pathophysiology of this disease has not been clearly established yet, Wnt and mTOR signaling pathways impairment in LGMDR1 muscles has been reported.

Results

A reduction in Akt phosphorylation ratio and upregulated expression of proteins implicated in glycolysis (HK-II) and in fructose and lactate transport (GLUT5 and MCT1) in LGMDR1 muscle was observed. In vitro analysis to establish mitochondrial and glycolytic functions of primary cultures were performed, however, no differences between control and patients were observed. Additionally, gene expression analysis showed a lack of correlation between primary myoblas

SUBMITTER: Rico A 

PROVIDER: S-EPMC10565977 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature