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Human Molecular Genetics, 2000, Vol. 9, No. 12 1821-1827
© 2000 Oxford University Press

A mouse model of galactose-induced cataracts

Yunjun Ai, Zhong Zheng, Ann O’Brien-Jenkins, David J. Bernard1, Tony Wynshaw-Boris,1,+, Cong Ning,2, Robert Reynolds,2, Stanton Segal,2, Kris Huang and Dwight Stambolian§

Departments of Ophthalmology and Genetics, University of Pennsylvania, Room 313 Stellar Chance, 422 Curie Boulevard, Philadelphia, PA 19104, USA, 1Genetic Disease Branch of the NHGRI and NIH, Bethesda, MD, USA and 2Division of Biochemical Development and Molecular Diseases, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

Galactokinase (GK; EC 2.7.1.6) is the first enzyme in the metabolism of galactose. In humans, GK deficiency results in congenital cataracts due to an accumulation of galactitol within the lens. In an attempt to make a galactosemic animal model, we cloned the mouse GK gene (Glk1) and disrupted it by gene targeting. As expected, galactose was very poorly metabolized in GK-deficient mice. In addition, both galactose and galactitol accumulated in tissues of GK-deficient mice. Surprisingly, the GK-deficient animals did not form cataracts even when fed a high galactose diet. However, the introduction of a human aldose reductase transgene into a GK-deficient background resulted in cataract formation within the first postnatal day. This mouse represents the first mouse model for congenital galactosemic cataract.

+ Present address: University of California, School of Medicine, San Diego, CA

§ To whom correspondence should be addressed. Tel: +1 215 898 0305; Fax: +1 215 573 6728; Email: stamboli@mail.med.upenn.edu


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