title: 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.
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil. Electronic address: estermpereira@gmail.com.
authors: Ester M
authors: EM
authors: Pereira
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: Semiramis J H
authors: SJ
authors: do Monte
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: Fernando F
authors: FF
authors: do Nascimento
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: Jose A F
authors: JA
authors: de Castro
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: Jackeline L M
authors: JL
authors: Sousa
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: Henrique C S A L C
authors: HC
authors: Filho
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: Raimundo N
authors: RN
authors: da Silva
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: Anatália
authors: A
authors: Labilloy
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: José T
authors: JT
authors: Monte Neto
authors: Laboratory of Immunogenetics and Molecular Biology, Universidade Federal do Piauí, Campus Petrônio Portela, Bloco 16, Teresina, Piauí, Brazil.
authors: Adalberto S
authors: AS
authors: da Silva
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D054316:Biomarkers, Pharmacological / Q000032:analysis; D016022:Case-Control Studies; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2 / Q000235:genetics*; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult; D000519:alpha-Galactosidase / Q000627:therapeutic use; D052118:Lysosomal-Associated Membrane Protein 1
chemical_list: D054316:Biomarkers, Pharmacological; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins; D000519:alpha-Galactosidase; C489116:LAMP1 protein, human; D052118:Lysosomal-Associated Membrane Protein 1; C497811:LAMP2 protein, human
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