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A simple test to identify retinitis pigmentosa

 

A team of American researchers has devised a way to identify retinitis pigmentosa using a simple blood or urine test.

 

Ophthalmologists Rong Wen and Byron Lam, from the Miller School of Medicine at the University of Miami, and biochemist Ziqiang Guan, from Duke University Medical School, discovered a key marker in blood and urine that can identify people who carry genetic mutations in a gene responsible for retinitis pigmentosa. “Collecting urine is non-invasive and easy,” says Rong Wen.

 

The first mutation in this gene, named DHDDS, was identified in 2011 by scientists at the Miller School of Medicine. “It is our vision that every patient who is affected with an inherited eye disease like RP should have access to a clinician who is knowledgeable about the diseases, as well as to affordable diagnostic testing and counseling,” says Lam. “This diagnostic test is a powerful tool that will help in developing treatments for RP caused by DHDDS mutations.”

 

The researchers published their findings in the Journal of Lipid Research.

Source:

http://med.miami.edu/news/researchers-discover-simple-blood-or-urine-test-to-identify-blinding-diseas/ 

Discovery of a gene linked to AMD

 

The loss of an anti-aging gene might contribute to the development of age-related macular degeneration.

 

After studying mice, researchers at Georgetown University found that the loss of the expression of the aging-suppressor gene Klotho leads to characteristics observed in both wet and dry forms of AMD in humans.

 

The researchers found four functions provided by the Klotho gene, a hormone that is secreted by some organs and tissues. It increases the activity of genes that synthesize the light absorbing visual pigments in the retinal cells. Klotho also increases the expression of genes that protect against the oxidative stress, which can lead to dry AMD. Klotho inhibits vascular endothelial growth and therefore, might play an important role in inhibiting the overgrowth of blood vessels in the eye. Klotho also regulates phagocytosis of the outer segment of photoreceptors in the retina. This process allows the photoreceptors to renew themselves. Without it, the photoreceptors degenerate and die causing blindness.

 

“For these reasons, we believe Klotho might be an interesting therapeutic target for age-related macular degeneration,” says senior investigator Nady Golestaneh. She nonetheless remains cautious, admitting that further studies should be done to quantify the decline of Klotho expression in human eyes and to link this dysfunction to AMD.

Source:

http://www.medicalnewstoday.com/releases/267179.php

 

 

 

Marcolin acquires Viva International

 

Marcolin and its European financial partner PAI Partners, together with HVHC, the holding company currently holding Viva International, just announced the signing of an agreement under which Marcolin agrees to acquire Viva International.

 

The acquisition, which is subject to satisfaction of customary closing conditions, is expected to become effective in the next few months. The purchase price was not disclosed.

 

According to the information available at this time, both companies expect Viva’s operation in New Jersey to remain with the new organization. Both Marcolin and Viva expect to use their respective facilities.

Better understanding of diabetic retinopathy treatment

Lowering blood glucose levels is not enough when treating diabetic retinopathy, according to German researchers.

 

Numerous proteins and molecules are involved in the process of optical signal transduction from the retina to the brain. Diabetic retinal damage leads to impaired function of these proteins. Scientists at Helmholtz Zentrum München (HMGU), in Munich, compared the concentrations of proteins in the retinas of non-diabetic mice, of mice with type 2 diabetes without treatment and of type 2 diabetic mice that were treated with the drug metformin. This treatment lowers blood glucose levels.

 

In total, 98 proteins were less abundant in the diabetic animals. About half of the proteins were normalized by treatment with metformin, while the others remained insufficient. Among these was the protein VGLUT1, which is essential for visual signal transduction.

 

“Our results show that normalized blood glucose levels alone are not sufficient to fully treat diabetic retinopathy,” said Dr. Alice Ly, a lead author of the study. “In further studies we want to examine how different combination therapies affect the retinal proteins, in order to achieve a better understanding of the causes and treatment of this diabetes complication.”

Source:

http://www.sciencedaily.com/releases/2013/10/131007094243.htm

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