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Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.

beta-Glucosidase 2 (GBA2) is a resident enzyme of the endoplasmic reticulum thought to play a role in the metabolism of bile acid-glucose conjugates. To gain insight into the biological function of this enzyme and its substrates, we generated mice deficient in GBA2 and found that these animals had normal bile acid metabolism. Knockout males exhibited impaired fertility. Microscopic examination of sperm revealed large round heads (globozoospermia), abnormal acrosomes, and defective mobility. Glycolipids, identified as glucosylceramides by mass spectrometry, accumulated in the testes, brains, and livers of the knockout mice but did not cause obvious neurological symptoms, organomegaly, or a reduction in lifespan. Recombinant GBA2 hydrolyzed glucosylceramide to glucose and ceramide; the same reaction catalyzed by the beta-glucosidase acid 1 (GBA1) defective in subjects with the Gaucher's form of lysosomal storage disease. We conclude that GBA2 is a glucosylceramidase whose loss causes accumulation of glycolipids and an endoplasmic reticulum storage disease.

Pubmed ID: 17080196 RIS Download

Mesh terms: Animals | Bile Acids and Salts | Fertilization in Vitro | Gene Expression | Glycolipids | Glycosylation | Infertility, Male | Male | Metabolic Diseases | Mice | Mice, Knockout | Mutation | Organ Specificity | Sperm Count | Sperm Motility | Testis | beta-Glucosidase

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Associated grants

  • Agency: NIGMS NIH HHS, Id: GM069338
  • Agency: NIAMS NIH HHS, Id: R01 AR051943
  • Agency: NHLBI NIH HHS, Id: P01 HL020948
  • Agency: NHLBI NIH HHS, Id: HL20948
  • Agency: NIGMS NIH HHS, Id: U54 GM069338
  • Agency: NIAMS NIH HHS, Id: AR51943

Mouse Genome Informatics (Data, Gene Annotation)

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