Featured Research

from universities, journals, and other organizations

Protein-protein Interaction Explains Vision Loss In Genetic Diseases

Date:
May 11, 2009
Source:
Baylor College of Medicine
Summary:
Scientists can now provide not only an explanation for the variations of vision loss in people with a host of disorders associated with defective cilia within the cells, but also a blueprint for unraveling similar variations in signs among people with other genetic diseases.

The mystery of genetic disease is only partially solved with the identification of a mutated gene. Often, the pattern of disease – the features or disorders associated with it – vary in type and severity among those who are affected. Scientists, physicians and patients all ask why.

Related Articles


In this week's journal Nature Genetics, an international consortium of researchers, including some from Baylor College of Medicine, provide not only an explanation for the variations of vision loss in people with a host of disorders associated with defective cilia within the cells, but also a blueprint for unraveling similar variations in signs among people with other genetic diseases.

In particular, this report deals with a variant of the gene RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in at least two inherited diseases (Meckel-Gruber and Joubert syndromes). However, the researchers showed that, when people who have similar diseases that are caused by different gene mutations affecting the cilia also have a particular variant of this gene, they also suffer more severe degeneration of the retina – the light-sensing part of the eye – and lose vision.

"When you look at a disorder such as Bardet-Biedl Syndrome with multiple features – extra fingers and toes, retinitis pigmentosa (a vision disorder), asthma, obesity and kidney, you wonder how a single gene can interact or influence the expression of the other 25,000 or so genes that humans have," said Dr. Richard Lewis, professor of ophthalmology, medicine, pediatrics, and molecular and human genetics at BCM and an author of the report.

In Bardet-Biedl Syndrome, he and his collaborators first identified the fact that it takes three changes in gene copies to cause disease. So far, they have identified most of the 14 different mutated genes associated with the disorder. Most have something to do with the structure or function of cilia, he said.

Cilia are tiny hair-like structures that either move things along inside the cell or help with sensory activities.

"Anything that disrupts this elevator that runs things from one part of a cell to another has an effect on the severity of the disorder," Lewis said. Some mutated genes may alter the structure of the elevator shaft and the movement of the car up and down, but another gene could actually affect the speed at which the elevator moves, said Lewis. If the product of that gene varies also, then it affects the protein interaction and ultimately, the patient's ability to see.

The authors note in their article that this finding highlights the importance of a multifaceted, multidisciplinary approach to discovering genes and proteins that modify these outward or phenotypic effects of genetic disease. These authors meld the talents of clinicians caring for patients and families with gene hunters and scientists working to understand the function of genes and their products in different cells and tissues.

The senior author of the report is Dr. Nicholas Katsanis of Johns Hopkins University and a former BCM trainee.

Other institutions that took part in this research include the University of Michigan at Ann Arbor, Johns Hopkins University School of Medicine in Baltimore, Maryland, McGill University Health Centre in Montreal, Quebec, Canada; Radboud University Nijmegen Medical Centre in The Netherlands; University College London, London, UK; National Eye Institute, Bethesda, Maryland; St, James University Hospital, Leeds, UK; University of Pennsylvania School of Medicine in Philadelphia; RWTH University of Aachen in Germany; and Hopital Necker-Enfants Malades in Paris, France.

Funding for this work came from the National Eye Institute, the National Institute of Child Health and Development, the National Institute of Diabetes, Digestive and Kidney Disorders, the Macular Vision Research Foundation, The Foundation for Fighting Blindness, Le Fonds de la recherché en santé du Quebec, Research to Prevent Blindness, Harold Falls Collegiate Professorship, the Midwest Eye Bank and Transplantation Center, the Searle Scholars Program, the Deutsche Forschungsgeminschaft, the UK Medical Research Council, NIHR Biomedical Research Centre for Ophthalmology and EU-GENORET Grant, the Howard Hughes Medical Institute and the Doris Duke Foundation.


Story Source:

The above story is based on materials provided by Baylor College of Medicine. Note: Materials may be edited for content and length.


Cite This Page:

Baylor College of Medicine. "Protein-protein Interaction Explains Vision Loss In Genetic Diseases." ScienceDaily. ScienceDaily, 11 May 2009. <www.sciencedaily.com/releases/2009/05/090510142601.htm>.
Baylor College of Medicine. (2009, May 11). Protein-protein Interaction Explains Vision Loss In Genetic Diseases. ScienceDaily. Retrieved November 28, 2014 from www.sciencedaily.com/releases/2009/05/090510142601.htm
Baylor College of Medicine. "Protein-protein Interaction Explains Vision Loss In Genetic Diseases." ScienceDaily. www.sciencedaily.com/releases/2009/05/090510142601.htm (accessed November 28, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, November 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 Video provided by AFP
Powered by NewsLook.com
Experimental Ebola Vaccine Shows Promise In Human Trial

Experimental Ebola Vaccine Shows Promise In Human Trial

Newsy (Nov. 27, 2014) — A recent test of a prototype Ebola vaccine generated an immune response to the disease in subjects. Video provided by Newsy
Powered by NewsLook.com
Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) — Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
Today's Prostheses Are More Capable Than Ever

Today's Prostheses Are More Capable Than Ever

Newsy (Nov. 26, 2014) — Advances in prosthetics are making replacement body parts stronger and more lifelike than they’ve ever been. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins