GENETIC MODEL OF VITAMIN E DEFICIENCY

Background: Humans lacking a-tocopherol transfer protein (a-TTP), a cytosolic protein expressed in the liver that serves to enrich the plasma and tissues in RRR-a-tocopherol, have severe vitamin E deficiency and, unless treated with high doses of vitamin E, develop a degenerative neurologic syndrome in which ataxia is prominent.

Description: Gladstone scientists generated mice lacking a-TTP, which is a model for human ataxia and vitamin E deficiency syndrome. a-TTP-deficient mice have reduced levels of a-tocopherol in their plasma and tissues, and female homozygous knockout mice are infertile owing to vitamin E deficiency. The transgenic mice enabled a study designed to examine the effects of a-TTP and vitamin E deficiency on atherosclerosis in apolipoprotein E-deficient mice.

Applications: The a-TTP-deficient mice will be a useful genetic model of vitamin E deficiency for studying other diseases thought to involve increased lipid peroxidation, such as cancer or neurodegenerative disease.

Gladstone Contact: Caryl Cachola
Telephone: 415-734-2082

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