Objective: The purpose of this study was to investigate whether alpha-galactosidase activity is present in whole and glandular saliva and whether alpha-galactosidase activity depends on blood type and secretor status.
Design: For the first experiments, 30 healthy participants (15 men, 15 women; mean age, 24.2+/-1.5 years) who were 10 A, 10 B, and 10 O blood type subjects were included. alpha-Galactosidase activity in unstimulated whole saliva (UWS) was assayed by using 4-methylumbelliferyl-alpha-d-galactopyranoside as a substrate. Total protein concentration was determined by bicinchoninic acid assay. The secretor status of the blood group antigens was determined by immunoblotting. alpha-Galactosidase activity in UWS according to gender, blood type, secretor status, sample clarification, and buffer was investigated. Daily variations of alpha-galactosidase activity and alpha-galactosidase isozyme activity were also investigated. For the second experiments, 10 healthy blood type B participants (5 men, 5 women; mean age, 27.0+/-2.7 years) were enrolled. alpha-Galactosidase activity in whole and glandular saliva was investigated.
Results: alpha-Galactosidase activity was detected in UWS and was mainly isozyme A activity. There was no difference in alpha-galactosidase activity according to gender, blood type, and secretor status. alpha-Galactosidase activity in UWS was higher in unclarified samples than in clarified ones and showed wide daily variations. alpha-Galactosidase activity in whole saliva was significantly higher than that in glandular saliva.
Conclusions: alpha-Galactosidase activity which is mainly isozyme A activity was detected in human whole and glandular saliva. alpha-Galactosidase activity in UWS did not differ according to blood type and secretor status.
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http://dx.doi.org/10.1016/j.archoralbio.2008.03.005 | DOI Listing |
Stem Cell Res
December 2024
Department of Internal Medicine I, Division of Cardiology, University Hospital Jena, FSU Jena, Germany.
Fabry disease (FD, OMIM #301500) is a rare metabolic disorder, X-linked glycosphingolipidosis that is characterized by pathogenic mutations in the GLA (Galactosidase Alpha) gene (OMIM *300644) that result in reduced α-galactosidase A (α-GAL) activity and accumulation of globotriaosylceramide (Gb3) in tissues and organs. Peripheral blood mononuclear cells (PBMCs) were used to generate human induced pluripotent stem cells (hiPSC). UKJi004-A was produced from a healthy donor, whereas UKJi003-A was produced from a patient who had FD with GLA-mutation (IVS6-10G>A).
View Article and Find Full Text PDFMol Ther Methods Clin Dev
December 2024
uniQure biopharma B.V., Amsterdam 1105 BP, the Netherlands.
We developed a novel adeno-associated virus 5 gene therapy (AAV5-GLA) expressing human alpha-galactosidase A (GLA) under the control of a novel, small and strong, liver-restricted promoter. We assessed the preclinical potential of AAV5-GLA for treating Fabry disease, an X-linked hereditary metabolic disorder resulting from mutations in the gene encoding GLA that lead to accumulation of the substrates globotriaosylceramide and globotriaosylsphingosine, causing heart, kidney, and central nervous system dysfunction. Effects of intravenously administered AAV5-GLA were evaluated in (1) GLA-knockout mice aged 7-8 weeks (early in disease) and 20 weeks (nociception phenotype manifestation) and (2) cynomolgus macaques during an 8-week period.
View Article and Find Full Text PDFJ Clin Med
November 2024
Department of Internal Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.
: Fabry disease (FD) is a genetic lysosomal storage disease caused by a pathogenic variant in GLA gene coding for a functional alpha-galactosidase A enzyme whose disfunction leads to globotriaosylceramide (Gb3) accumulation in cells, which results in multiple organ disorders. The aim of this study was to identify mutations associated with Fabry disease among 829 kidney transplant recipients and to investigate the correlation between the factors such as age, dialysis vintage, eGFR, proteinuria and corticosteroid dose and the deviations in alpha-galactosidase A and lyso-Gb3 levels. Dry blood spot samples were collected for genetic analysis.
View Article and Find Full Text PDFFront Microbiol
November 2024
Key Laboratory of Animal Nutrition and Feed Science in East China, Ministry of Agriculture, College of Animal Sciences, Zhejiang University, Hangzhou, China.
This study aimed to investigate the effects of multi-enzyme (alkaline protease, xylanase, glucanase, β-mannanase, cellulase, acid protease, glucoamylase, and α-galactosidase) on antioxidant capacity, egg quality, amino acid profiles in yolk, cecal microflora and metabolites in laying hens. A total of 384 Jingfen No.6 laying hens aged 65 weeks were randomly divided into 4 treatments groups (6 replicates per group) and fed diets containing 0, 150, 300, or 600 mg kg multi-enzyme over an 8-week feeding duration.
View Article and Find Full Text PDFNephrology (Carlton)
January 2025
Department of Nephrology, Ajou University School of Medicine, Suwon, Republic of Korea.
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