Navigation Links
U. Iowa research team finds new genetic cause of blinding eye disease
Date:8/9/2011

221.10.254.64

Combining the expertise of several different labs, University of Iowa researchers have found a new genetic cause of the blinding eye disease retinitis pigmentosa (RP) and, in the process, discovered an entirely new version of the message that codes for the affected protein.

The study, which was published online Aug. 8 in the Proceedings of the National Academy of Sciences (PNAS) Early Edition, suggests that the mutation may be a significant cause of RP in people of Jewish descent. The findings also lay the groundwork for developing prevention and treatment for this form of RP using a combination of genetic testing, gene therapy and cell replacement approaches.

Using the latest DNA sequencing techniques to analyze the protein-coding regions of a single RP patient's genome, the researchers found a mutation in a gene called MAK (male germ cell associated kinase). This gene had not previously been associated with eye disease in humans. However, examining tissue from donated eyes showed that MAK protein was located in the parts of the retina that are affected by the disease.

The researchers then generated induced pluripotent stem cells (iPSCs) from the patient's own skin cells and coaxed these immature cells to develop into retinal tissue. Analyzing this tissue showed that the gene mutation caused the loss of the MAK protein in the retina.

"These new technologies have greatly enhanced our ability to find and validate disease-causing mutations, which is critical to our ability to progress to the next step of actually treating diseases like RP," said Budd Tucker, Ph.D., UI assistant professor of ophthalmology and visual science and lead study author.

RP is an uncommon, inherited blinding eye disease that affects about 1 in 4,000 people in the United States. It is thought to be caused by mutations in more than 100 different genes, only half of which have been identified.<
'/>"/>

Contact: Jennifer Brown
jennifer-l-brown@uiowa.edu
319-356-7124
University of Iowa Health Care
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Wistar Institute researcher receives New Innovator award from NIH
2. NC State researchers get to root of parasite genome
3. White Mountain Research Station to host climate change conference
4. Stevens awarded $1M for advanced biofuels research
5. Researchers find animal with ability to survive climate change
6. Researchers find an essential gene for forming ears of corn
7. Researchers note differences between people and animals on calorie restriction
8. Researcher working on destruction of chemical weapons
9. Researchers study acoustic communication in deep-sea fish
10. Researchers discover that growing up too fast may mean dying young in honey bees
11. The Rett Syndrome Research Trust launches operations
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/22/2015)... , Jan. 13, 2015 /PRNewswire/ - Today, FindBiometrics, the leading ... the launch of its new website design. "When ... its infancy", says Peter O,Neill , founder and CEO ... the industry needs involvement from the key players on a ...
(Date:1/22/2015)... Showcase, Hall E -   EyeLock Inc. , a market ... showcase its EyeLock ID technology integrated in a 3D printed ... Oak Ridge National Laboratory (ORNL) at the 2015 ... technology is being used to validate the driver and authorize ...
(Date:1/22/2015)... man-made form of insulin delivered by nasal spray may ... with mild cognitive impairment and Alzheimer,s disease dementia, according ... Forest Baptist Medical Center. The study,s subjects ... (MCI) or mild to moderate Alzheimer,s dementia (AD). Those ...
Breaking Biology News(10 mins):Identity Industry Leading Publication Debuts New Look As Biometrics Hit Mainstream 2EyeLock Debuts First Iris Authentication Technology Embedded in 3D Printed Automobile 2EyeLock Debuts First Iris Authentication Technology Embedded in 3D Printed Automobile 3Nasal Spray with Insulin Equivalent Shows Promise as Treatment for Adults with Mild Cognitive Impairment, Alzheimer's Dementia 2Nasal Spray with Insulin Equivalent Shows Promise as Treatment for Adults with Mild Cognitive Impairment, Alzheimer's Dementia 3
... A new systematic assessment of malnutrition, created by ... health care providers in diagnosis and treatment. Up ... facilities are estimated to be malnourished, according to Gordon ... Although malnutrition is widespread, confusion exists in the clinical ...
... discovered an Achilles heel within our cells that bacteria are ... The researchers say their findings could lead to the development ... has led to resistance. University of Manchester researchers studied ... that can cause listeriosis in humans when digested and ...
... Samuel M. Young, Jr., PhD, research group leader ... received his first grant from The Michael J. Fox ... enable Dr. Young and colleagues to develop a technology ... research potential treatments that target LRRK2, a Parkinson,s-related gene. ...
Cached Biology News:Researchers unveil new assessment for diagnosing malnutrition 2Michael J. Fox Foundation grant to Dr. Samuel Young will provide Parkinson's drug development tools 2Michael J. Fox Foundation grant to Dr. Samuel Young will provide Parkinson's drug development tools 3
(Date:1/22/2015)... Switzerland (PRWEB) January 22, 2015 Selexis ... characterized mammalian Research Cell Banks (RCBs) used for drug ... Research Cell Banks will include Next-Generation Sequencing ... genetic architecture de-risks biologic manufacturing by ensuring the integrity ...
(Date:1/22/2015)... Nueva Jersey , 22 de enero de 2015  El ... abre hoy su llamada a nominaciones para 2015. Este ... ha hecho, o tiene el potencial para hacer, contribuciones ... nominaciones se aceptarán hasta el 15 de marzo de ...
(Date:1/22/2015)... , Jan. 22. 2015  Varian Medical Systems (NYSE: ... has been honored for its commitment to sustainability with inclusion ... Varian is the highest ranked healthcare equipment company among the ... during the World Economic Forum at Davos, Switzerland ...
(Date:1/22/2015)... PRINCETON, N.J. , Jan. 22, 2015  Derma ... tissue regeneration company focused on advanced wound care, ... from placental tissues, have been added to the ... announcement increases the opportunity for the AMNIOEXCEL® and ...
Breaking Biology Technology:Selexis Generated Research Cell Banks Now Fully Sequenced Using Next-Generation Sequencing 2El Dr. Paul Janssen Award for Biomedical Research emite su llamada a los nominados para 2015 2El Dr. Paul Janssen Award for Biomedical Research emite su llamada a los nominados para 2015 3El Dr. Paul Janssen Award for Biomedical Research emite su llamada a los nominados para 2015 4Varian Honored Among World's 100 Most Sustainable Corporations 2Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 2Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 3Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 4Derma Sciences Expands Access of its AMNIOTIC TISSUE Product Line with New Premier, Inc. Agreement 5
... (NYSE: APD ) and Alter NRG Corp. ... Development Agreement (JDA) to pursue renewable energy opportunities in ... Air Products the right to license and incorporate Alter ... renewable energy projects. Air Products will initially focus ...
... SAN CLEMENTE, Calif., Feb. 4 To say that ... a series of successes in 2008 that are providing ... quite be telling the whole story. This past ... the young company, as it literally expanded its presence ...
... Board: GOVX), an Atlanta-based, publicly traded,biopharmaceutical company developing human ... other infectious agents, today,announced that its Corporate Presentation at ... live by Thomson Reuters. The Conference will be held ... 9 and 10, 2009. , ...
Cached Biology Technology:Air Products and Alter NRG Sign JDA on Renewable Energy Projects 2Air Products and Alter NRG Sign JDA on Renewable Energy Projects 3Air Products and Alter NRG Sign JDA on Renewable Energy Projects 4While Most Companies and Industries Struggled in 2008, LifeModeler, Inc. Used Unique Products to Post Aggressive Business Gains in All Areas 2While Most Companies and Industries Struggled in 2008, LifeModeler, Inc. Used Unique Products to Post Aggressive Business Gains in All Areas 3While Most Companies and Industries Struggled in 2008, LifeModeler, Inc. Used Unique Products to Post Aggressive Business Gains in All Areas 4GeoVax to Webcast Its Presentation at the BIO CEO & Investor 2009 Conference 2GeoVax to Webcast Its Presentation at the BIO CEO & Investor 2009 Conference 3
... siSolutions siRNA Custom Synthesis ... effective duplex RNA to knockdown ... 21-mers (19 RNA base pairs ... recently-published 27-mers, or other lengths ...
Alexa Fluor 647 anti-mouse Qa-2...
...
Alexa Fluor 647 anti-mouse Qa-2...
Biology Products: