Navigation Links
Cells from skin create model of blinding eye disease
Date:11/8/2012

MADISON For the first time, Wisconsin researchers have taken skin from patients and, using induced pluripotent stem cell (iPSC) technology, turned them into a laboratory model for an inherited type of macular degeneration.

Dr. David Gamm, director of the UW's McPherson Eye Research Institute, said that while Best disease is relatively rare, having a patient-specific model of the eye disease, which destroys the macula of the retina, could lead to a greater understanding of more common eye disorders such as age-related macular degeneration.

"This model gives us a chance to understand the biological effects of human gene mutations in a relatively expeditious manner,'' says Gamm, associate professor of ophthalmology and visual sciences and pediatrics. "Ultimately, we hope the model will help us craft treatments to slow or reverse the course of Best Disease."

Gamm and lead researchers Dr. Ruchira Singh and Dr. Wei Shen, all members of the UW's Waisman Center, took skin samples from members of two Chicago-area families with Best disease.

Children in those families have a 50-percent chance of inheriting the gene that causes the disease, which begins destroying the macula as early as age three. Using samples of affected and unaffected siblings, they turned the skin into stem cells, then into retinal pigment epithelium, the cells of the eye that are affected by the disease.

In the laboratory dish, they were able to track the changes that underlie a lesion on the retina that resembles "egg yolk," and progresses to a stage called "scrambled egg," which destroys the central vision.

The UW model revealed some of the cellular processes causing the disease. The models of the Best disease patients showed a buildup of fluid and old photoreceptor cells, indicating something gone wrong with the ability to degrade and remove debris such as dead cells. On a molecular level, the Best cells were slow to degrade rhodopsin, a biological pigment in photoreceptor cells, and had differences in calcium signaling and oxidative stress.

"These results give us some ideas where to look for therapies that would allow us to interfere with the disease process,'' says Gamm. "And the stem cell model gives us a chance to test those therapies before trying them on patients."

Even more important, on a human level, is how excited some of the family members were to participate in understanding and eventually treating a disease that has plagued generations of their families.

"These family members know they're not getting treated directly as a result of this study, but they're doing it out of concern for the next generation,'' Gamm said. "That brings peace to them, to know that they're not passive victims of this disease, but instead, active players in the discovery process."

The chief research officer of the Foundation Fighting Blindness, which helped fund the Best disease project, says the method holds promise for a number of retinal conditions.

"We are delighted by the highly innovative research of Dr. Gamm and his lab in harnessing stem cells to better understand complex retinal diseases and move us closer to vision-saving treatments and cures,'' says Dr. Stephen Rose. "His techniques can be used to help characterize and overcome the entire spectrum of inherited retinal conditions."


'/>"/>
Contact: Susan Lampert Smith
ssmith5@uwhealth.org
608-262-7335
University of Wisconsin-Madison
Source:Eurekalert

Related biology news :

1. Tortoise and the hare: New drug stops rushing cancer cells, slow and steady healthy cells unharmed
2. Stem cells can repair a damaged cornea
3. Scientists produce eye structures from human blood-derived stem cells
4. Study demonstrates cells can acquire new functions through transcriptional regulatory network
5. Epigenetic signatures direct the repair potential of reprogrammed cells
6. Researchers print live cells with a standard inkjet printer
7. Nanopills release drugs directly from the inside of cells
8. Protein jailbreak helps breast cancer cells live
9. Newly found protein helps cells build tissues
10. BU researchers derive purified lung and thyroid progenitors from embryonic stem cells
11. Housekeeping mechanism for brain stem cells discovered
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/10/2016)... PUNE, India , February 10, 2016 ... --> According to 2016 iris ... fingerprint identification iris recognition is more widely ... are available with both fingerprint and iris ... allows the user to avoid purchasing two ...
(Date:2/5/2016)... DUBLIN , Feb. 5, 2016 /PRNewswire/ ... the addition of the "Global Facial ... offering. --> http://www.researchandmarkets.com/research/5kvw8m/global_facial ) has ... Facial Recognition Market 2016-2020" report to ... Markets ( http://www.researchandmarkets.com/research/5kvw8m/global_facial ) has announced the ...
(Date:2/3/2016)... LIVERMORE, Calif. , Feb. 3, 2016 ... Police Department in Missouri ... of license plate reader (LPR) data from Vigilant Solutions. ... a hit-and-run case in which the victim was walking out ... a parking space next to his vehicle, striking his ...
Breaking Biology News(10 mins):
(Date:2/10/2016)...  The Maryland House of Delegates and House Speaker ... of Maryland School of Medicine Dean E. Albert ... Medical System President and CEO Robert Chrencik , ... honor given to the public by the leader of ... and Mr. Chrencik for their contributions to our ...
(Date:2/10/2016)... (PRWEB) , ... February 10, ... ... REGN) today announced that it has joined the Human Vaccines Project, a ... infectious diseases and cancer. , The Human Vaccines Project brings together ...
(Date:2/10/2016)... 2016  Matchbook, Inc., a company specializing in ... companies, announced today the appointment of Jim ... brings nearly 25 years of experience in supply ... nearly two decades in executive level roles as ... Genzyme and, most recently headed global logistics and ...
(Date:2/10/2016)... ... February 10, 2016 , ... LATHAM, NEW YORK... Marktech Optoelectronics ... Photonics West conference in San Francisco’s Moscone Center from February 16-18, 2016, and ... , These latest InGaAs PIN diode standard packages feature a TO-46 metal can ...
Breaking Biology Technology: