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

due to SCD alteration of UBIAD1, and the association of UBIAD1 with enzymes involved in cholesterol production and storage, providing direct links between UBIAD1 and cholesterol metabolism that are likely involved in the development of SCD. These findings indicate that decreased MK-4 production by SCD-mutant UBIAD1 is a consistent biochemical defect associated with the accumulation of cholesterol observed in the corneas of SCD patients.

The current study indicates endogenous, intracellular MK-4 produced by UBIAD1 has a physiologic role in maintaining corneal health and visual acuity that is distinct from the role of dietary vitamin K in blood clotting. The finding of decreased MK-4 production by SCD mutant UBIAD1 suggests MK-4 supplements, potentially delivered by topical administration to the eyes, might be useful as a therapy to treat clouded corneas, or at least prevent the continued accumulation of cholesterol and lipids that are seen in SCD.

"Research like this helps us target new treatment or prevention approaches that may benefit not only people with Schnyder corneal dystrophy," notes Dr. Jayne Weiss, who also holds the Herbert E. Kaufman, MD Endowed Chair in Ophthalmology at LSU Health Sciences Center New Orleans and is Director of the LSU Eye Center. "Discovering a new component of the dynamic cellular cholesterol regulatory network gives us information that can be applied to every disease arising from a defect in it. Besides Schnyder's corneal dystrophy, this includes many types of cancer."


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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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