期刊
HUMAN MOLECULAR GENETICS
卷 9, 期 12, 页码 1821-1827出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/9.12.1821
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资金
- NEI NIH HHS [R01 EY09404] Funding Source: Medline
- NICHD NIH HHS [P01 HD29847] Funding Source: Medline
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.
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