Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease

Abstract

This study investigated the potential relationship between the expression levels of lysosome-associated membrane proteins (LAMP) 1 and 2 and responses to enzyme replacement therapy (ERT) in the members of a single family with Fabry disease (FD). LAMP levels were assessed by flow cytometry in leukocytes from 17 FD patients who received an eight-month course of ERT course and 101 healthy individuals. We found that phagocytic cells from the FD patients had higher expression levels of both LAMP-1 and LAMP-2, relative to the levels in phagocytes from the healthy controls (p=0.001). Furthermore, the LAMP-1 and LAMP-2 levels in phagocytes from the FD carriers continuously decreased with ERT administration to reach levels similar to those in healthy controls. We suggest that LAMP-1 and LAMP-2 could be used as additional markers with which to assess ERT effectiveness in FD.

Keywords: AUC; ECC; ECG; ERT; Enzyme replacement therapy; FD; Fabry disease; GLA; Gb3; LAMP-1; LAMP-2; LDs; LVMI; Lyso-Gb3; PBMC; albumin/creatinine ratio; deacetylated form of Gb3; eGFR; echocardiogram; electrocardiogram; enzyme replacement therapy; globotriaosylceramide; glomerular filtration ratio; left ventricular mass index; lysosomal disorders; lysosome-associated protein 1; lysosome-associated protein 2; peripheral blood mononuclear cells; α-galactosidase A; α-galactosidase A gene; α–GAL.