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

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

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

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.

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. Publishing Authors By Initials

For similar enzymes and coenzymes: enzymes: hydrolases: glycoside hydrolases: glucosidases: cellulases: beta-glucosidase research abstracts see: enzymes and coenzymes: enzymes: hydrolases: glycoside hydrolases: glucosidases: cellulases: beta-glucosidase research

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

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: The Journal of clinical investigation

VOLUME: 116

Page Numbers: 2985-94

Journal Abbreviation: J. Clin. Invest.

ISSN: 0021-9738

DAY: 3

MONTH: Nov

YEAR: 2006

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

Number of References:

LANGUAGE: eng

NlmUniqueID: 7802877

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. Keywords Mesh Terms:

KEYWORDS: beta-Glucosidase

MESH TERMS: metabolism

Chemical & Substance for Abstract: Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. Information

Substance Name: beta-Glucosidase

Registry Number: EC 3.2.1.21

Grant and Affiliation Information for Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility.

AFFILIATION: Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

Country: United States

AGENCY: United States NHLBI

GRANT: HL20948

ACRONYM: HL

MEDLINETA: J Clin Invest

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