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:2/21/2017)... and PORTLAND, Ore. , Feb. ... the Avamere Family of Companies (Avamere Health Services, Infinity ... a six-month research study that will apply the power ... at senior living and health centers. By analyzing data ... to gain insights into physical and environmental conditions, and ...
(Date:2/13/2017)... , Feb. 13, 2017  RSA Conference -- RSA, ... that is designed to enhance fraud detection and ... in the RSA Fraud & Risk Intelligence Suite. ... to leverage additional insights from internal and external ... better protect their customers from targeted cybercrime attacks. ...
(Date:2/8/2017)... , Feb. 8, 2017 About Voice ... voice to match it against a stored voiceprint ... as pitch, cadence, and tone are compared to ... minimal hardware installation, as most PCs already have ... different transactions. Voice recognition biometrics are most likely ...
Breaking Biology News(10 mins):
(Date:2/27/2017)... Pharmaceuticals, Inc. ("InMed") (CSE: IN; OTCQB: IMLFF), reported today that ... total of 10,672,750 common share purchase warrants have been exercised ... the exercise of these warrants totalled $1,387,458 and 10,672,750 common ... ... expression of confidence by our warrant holders. This infusion of ...
(Date:2/27/2017)... , Feb. 27, 2017 Fluxion Biosciences ... Spain has been appointed as a Certified ... The IsoFlux system will be used in Genetracer Biotech,s ... to lung and colon cancer, with plans to move ... laboratory is utilizing Fluxion,s IsoFlux System to isolate, recover, ...
(Date:2/25/2017)... (PRWEB) , ... February 25, 2017 , ... ... Verified Clinical Trials in an ongoing effort to create meaningful change ... advocacy, and pharmaceutical research with emphasis on consumers and patients’ mental health well-being. ...
(Date:2/24/2017)... 2017 Provectus Biopharmaceuticals, Inc. (OTCQB: PVCT, ... clinical-stage oncology and dermatology biopharmaceutical company, today is ... in its previously announced rights offering of up ... common stock and Series C Convertible Preferred Stock ... As previously announced, the rights ...
Breaking Biology Technology: