Globotriaosylceramide

Clinical significance

Defects in the enzyme alpha-galactosidase lead to the buildup of globotriaosylceramide, causing Fabry's disease. The pharmaceutical drug migalastat enhances the function of alpha-galactosidase and is used to treat Fabry's.

Globotriaosylceramide is also one of the targets of Shiga toxin, which is responsible for pathogenicity of enterohemorrhagic Escherichia coli (EHEC).

The bacterial Shiga toxin can be used for targeted therapy of certain gastrointestinal cancers that express the receptor of the Shiga toxin. For this purpose a non-specific chemotherapeutic agent is conjugated to the B-subunit to make it specific. In this way only the tumor cells, but not healthy cells, should be destroyed during therapy.

References

References

1. {{MeshName. globotriaosylceramide
2. (October 2006). "The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature". Cardiovasc Hematol Agents Med Chem.
3. Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic & molecular bases of inherited disease. 8th ed. Vol. 3. New York: McGraw-Hill, 2001:3733-74.
4. (2009). "Shiga toxin receptor Gb3Cer/CD77: Tumor-association and promising therapeutic target in pancreas and colon cancers". PLoS One.
5. (2016). "Gastric adenocarcinomas express the glycosphingolipid Gb₃/CD77: Targeting of gastric cancer cells with Shiga toxin B-subunit". Molecular Cancer Therapeutics.