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Research discovers gene mutation causing rare eye disease
Date:2/21/2013

New Orleans, LA Research conducted by Dr. Jayne S. Weiss, Professor and Chair of Ophthalmology at LSU Health Sciences Center New Orleans, and colleagues has discovered a new mutation in a gene that causes Schnyder corneal dystrophy (SCD.) The gene was found to be involved in vitamin K metabolism suggesting the possibility that vitamin K may eventually be found useful in its treatment. The findings are published in the February 2013 issue of the peer-reviewed journal, Human Mutation.

Schnyder corneal dystrophy is a rare hereditary eye disease that results in progressive loss of vision as abnormal deposits of cholesterol and other fats cloud the cornea. Affecting both eyes, it often requires corneal transplantation surgery.

Dr. Weiss is one of the world's leading authorities on the disease. She identified the largest group of people with SCD in the world and corrected misconceptions about the disease facilitating its diagnosis. Dr. Weiss and her colleagues discovered UBIAD1, the gene that causes SCD, in 2007 a gene that is also involved in cholesterol metabolism. Their research continues to try to identify exactly how the disease develops.

Researchers suspected that the function of UBIAD1 might be related to the production of endogenous vitamin K. UBIAD1 was recently shown to trigger the production of menaquinone-4, or MK-4, the predominant form of hormonally active vitamin K in humans. Vitamin K is an important cofactor in blood clotting and bone metabolism. Cholesterol heavily influences the proteins that work with vitamin K.

This study identified a new DNA mutation in UBIAD1 that substituted one amino acid with another in 51 members of six SCD families. The mutation, which alters enzyme function, is likely involved in causing the disease as it was found in 47 of 47 people with clinically diagnosed SCD and was not observed in 300 control individuals.

The research team also showed significantly reduced production of MK-4
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Contact: Leslie Capo
lcapo@lsuhsc.edu
504-568-4806
Louisiana State University Health Sciences Center
Source:Eurekalert

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