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Gene mutation exacerbates eye defect in inherited glaucoma

se defects, the researchers administered the chemical to the drinking water of pregnant mice lacking both Cyp1b1 and tyrosinase. They found that the treatment prevented the severe abnormalities in pups born to the mice who had been fed L-DOPA.

John noted that another enzyme, tyrosine hydroxylase, is also involved in L-DOPA production, suggesting yet another biochemical pathway affecting anterior segment development in the eye and severity of PCG.

"Together, these findings open a new avenue for investigating the role of L-DOPA in anterior segment development and glaucoma caused by various genes," said John. "Furthermore, identifying L-DOPA as a key molecule may link the functions of many of the known genes that cause anterior segment dysgenesis and glaucoma," he said. "Most of these known genes can affect tyrosine hydroxylase in the neural crest cells, from which the relevant anterior segment structures derive. Therefore, our work provides a conceptual linkage for anterior segment developmental disorders caused by different genes, and it provides an important framework for future experiments."

While the researchers note that L-DOPA is already used to treat symptoms of Parkinson's disease, they are cautious about recommending its use in treating glaucoma. "L-DOPA is a molecule that affects the nervous system, and we need to proceed very carefully with further animal and human studies before we will know whether such a treatment can become a clinical reality," said John.

It may be the case, said John, that drugs that enhance the enzyme tyrosinase itself -- and not administration of L-DOPA -- that will be more useful as therapeutics. "We are very excited because these findings open up a new avenue for research on these disorders," he said.

The Jackson Laboratory, founded in 1929, is a world leader in mammalian genetics research. The nonprofit, independent facility has a mission to improve the quality of human life through discove
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Contact: Joyce Peterson
joyce@jax.org
207-288-6058
Jackson Laboratory
7-Mar-2003


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