[HTML][HTML] α-Galactosidase A deficiency in Fabry disease leads to extensive dysregulated cellular signaling pathways in human podocytes

U Jehn, S Bayraktar, S Pollmann, V Van Marck… - International Journal of …, 2021 - mdpi.com
U Jehn, S Bayraktar, S Pollmann, V Van Marck, T Weide, H Pavenstädt, E Brand, M Lenders
International Journal of Molecular Sciences, 2021mdpi.com
Fabry disease (FD) is caused by mutations in the α-galactosidase A (GLA) gene encoding
the lysosomal AGAL enzyme. Loss of enzymatic AGAL activity and cellular accumulation of
sphingolipids (mainly globotriaosylcermide) may lead to podocyturia and renal loss of
function with increased cardiovascular morbidity and mortality in affected patients. To
identify dysregulated cellular pathways in FD, we established a stable AGAL-deficient
podocyte cell line to perform a comprehensive proteome analysis. Imbalanced protein …
Fabry disease (FD) is caused by mutations in the α-galactosidase A (GLA) gene encoding the lysosomal AGAL enzyme. Loss of enzymatic AGAL activity and cellular accumulation of sphingolipids (mainly globotriaosylcermide) may lead to podocyturia and renal loss of function with increased cardiovascular morbidity and mortality in affected patients. To identify dysregulated cellular pathways in FD, we established a stable AGAL-deficient podocyte cell line to perform a comprehensive proteome analysis. Imbalanced protein expression and function were analyzed in additional FD cell lines including endothelial, epithelial kidney, patient-derived urinary cells and kidney biopsies. AGAL-deficient podocytes showed dysregulated proteins involved in thermogenesis, lysosomal trafficking and function, metabolic activity, cell-cell interactions and cell cycle. Proteins associated with neurological diseases were upregulated in AGAL-deficient podocytes. Rescues with inducible AGAL expression only partially normalized protein expression. A disturbed protein expression was confirmed in endothelial, epithelial and patient-specific cells, pointing toward fundamental pathway disturbances rather than to cell type-specific alterations in FD. We conclude that a loss of AGAL function results in profound changes of cellular pathways, which are ubiquitously in different cell types. Due to these profound alterations, current approved FD-specific therapies may not be sufficient to completely reverse all dysregulated pathways.
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