Navigation Links
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 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."


'/>"/>

Contact: Leslie Capo
lcapo@lsuhsc.edu
504-568-4806
Louisiana State University Health Sciences Center
Source:Eurekalert

Related biology news :

1. New research on migratory behavior of oceanic whitetip sharks can help shape conservation strategies
2. Researchers say sunlight yields more efficient carbon dioxide to methanol model
3. Inspiring teens with research virus: Expert-mentored bioscience contest proves a powerful vector
4. Researchers decipher modus operandi of potential Alzheimers drug
5. Research secured for the future: Pensoft Publishers takes on CLOCKSS archival technology
6. Stanford researchers develop tool for reading the minds of mice
7. Virology researcher awarded nearly $2 million to study chronic hepatitis E
8. Organic rice research moves to front burner in Texas
9. Sloan Foundation announces 2013 Sloan Research Fellows
10. Researchers in Manchester find genetic key to preventing spine tumors
11. The role of goop: Research shows pollution doesnt change the rate of droplet formation
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/29/2017)...  higi, the health IT company that operates the ... , today announced a Series B investment from ... The new investment and acquisition accelerates higi,s strategy to ... population health activities through the collection and workflow integration ... collects and secures data today on behalf of over ...
(Date:3/27/2017)... March 27, 2017  Catholic Health Services (CHS) ... Systems Society (HIMSS) Analytics for achieving Stage 6 ... sm . In addition, CHS previously earned a ... using an electronic medical record (EMR). ... level of EMR usage in an outpatient setting.  ...
(Date:3/24/2017)... -- Research and Markets has announced the addition of ... - Industry Forecast to 2025" report to their offering. ... The Global Biometric Vehicle ... around 15.1% over the next decade to reach approximately $1,580 million ... estimates and forecasts for all the given segments on global as ...
Breaking Biology News(10 mins):
(Date:7/18/2017)... ... 2017 , ... Blood centers traditionally see a dangerous drop of blood donations ... struggle for community blood centers as high schools are out and many frequent donors ... is teaming up with the South Texas Blood & Tissue Center (STBTC), ...
(Date:7/18/2017)... ... July 18, 2017 , ... Recently ... ( https://dataformsoftware.com ) announces the migration of its flagship cloud-based product Planet Life ... a team-centric, enterprise work management system that merges strategic and financial planning with ...
(Date:7/17/2017)... ... 2017 , ... The Academy of Model Aeronautics (AMA) will host Aviation Adventure ... take place from 9 a.m. to 2 p.m. at the International Aeromodeling Center in ... Aviation Adventure Day will be packed with entertaining activities for the entire family. Attendees ...
(Date:7/17/2017)... ... 2017 , ... OHAUS Corporation, a leading worldwide manufacturer of ... line of Heavy-Duty Orbital Shakers today. , Eight New Models Available, OHAUS has ... These shakers are ideal for load capacities from 35 to 150 pounds, ...
Breaking Biology Technology: