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Decrease of plasma taurine in Gaucher disease and its sustained correction during enzyme replacement therapy
S vom Dahl1, I Mönnighoff, D Häussinger
1Division of Gastroenterology, Hepatology and Infectious Diseases, Heinrich-Heine-University, Düsseldorf, Federal Republic of Germany. dahlv@uni-duesseldorf.de
Amino Acids
|January 5, 2001
Summary
Gaucher disease patients have lower plasma taurine levels, which may contribute to macrophage activation. Enzyme replacement therapy appears to restore taurine levels, suggesting a potential therapeutic link.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Gaucher disease results from glucocerebrosidase deficiency, causing glucosylceramide accumulation in macrophages.
- This accumulation leads to organomegaly, bone issues, and cytopenias, which are treatable with enzyme replacement therapy (ERT).
- The mechanisms behind macrophage activation in Gaucher disease remain unclear, though osmolytes like taurine regulate macrophage function.
Purpose of the Study:
- To investigate the role of plasma taurine levels in Gaucher disease, considering its macrophage-centric pathology.
- To determine if taurine levels differ between healthy controls, untreated Gaucher patients, and treated Gaucher patients.
Main Methods:
- Fasting plasma samples were collected from healthy controls (n=29), untreated Gaucher patients (n=16), and ERT-treated Gaucher patients (n=54).
- Plasma amino acid analysis was performed using a BioChrom amino acid analyzer.
- Plasma taurine levels were quantified and compared across the groups.
Main Results:
- Untreated Gaucher patients exhibited significantly lower plasma taurine levels (45 ± 3 μM) compared to controls (63 ± 4 μM, p < 0.01).
- During the first year of ERT, plasma taurine increased by an average of 18 ± 8 μM.
- After long-term ERT (average 37 months), plasma taurine levels (65 ± 4 μM) normalized and were not significantly different from controls.
Conclusions:
- Gaucher disease is associated with reduced plasma taurine levels.
- Enzyme replacement therapy may correct these depleted taurine levels.
- Further research is needed to establish if reduced taurine availability is a cofactor in the persistent activation of glucosylceramide-storing macrophages in Gaucher disease.