Navigation Links
Researchers find new insights into inherited retinal disease
Date:1/17/2010

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine have discovered new links between a common form of inherited blindness affecting children and a gene known as Abelson helper integration site-1 (AHI1). Their findings, which may lead to new therapies and improved diagnostics for retinal disease, will appear online in advance of publication in the journal Nature Genetics on January 17.

A newly recognized class of disease known as "ciliopathies" has caught the attention of the medical community. Ciliopathies are caused by problems in the structure and/or function of cilia, which are small antenna-like structures protruding from the surface of most cells.

The function of cilia has not been understood, but patients with ciliopathies can suffer from a spectrum of problems including retinal blindness, obesity, renal failure, liver fibrosis and mental impairment. Major breakthroughs in the past few years have linked many forms of these diseases with defects in the structure or signaling capacity of the cilia in cells as diverse as retinal, fat, kidney, liver and nerve cells. Because cilia are so widely present on cells throughout the body, many seemingly unrelated diseases are now known to be related through functions of cilia.

"We are just beginning to uncover the genetic causes for these disorders, but more research is needed to understand why patients with these particular genetic alterations have such variable diseases," said Joseph G. Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego and Howard Hughes Medical Institute Investigator, who supervised the work.

The scientists, led by Gleeson and UCSD graduate student Carrie M. Louie, discovered that loss of the AHI1 gene, which had already been found to cause Joubert Syndrome, a ciliopathy of mental retardation and impaired balance, also caused severe early onset retinal degeneration in the mouse model that they created. This model resembled the most common form of inherited blindness, which is due to degeneration of the retina at an early age.

Further investigation revealed that retinal photoreceptor cells in the mouse model were most likely dying as a result of a toxic accumulation of the very photopigment that receives light signals in the eye and is crucial for normal vision. This finding sheds light on one of the potential causes of retinal degeneration, protein mis-trafficking, which has been of fundamental interest in the study of inherited blindness, according to Gleeson.

The group then tested whether mutations in genes might contribute to retinal blindness in other related diseases. Their analysis of a group of European patients suggests that this is the case. The scientists found that patients carrying a particular genetic alteration were between five and ten times more likely to have retinal blindness, and that some forms of this blindness may be particularly amenable to gene therapy.

"These results may lead to better screening and future therapies for congenital blindness," said Louie. "As routine sequencing of the human genome becomes more and more feasible, studies like ours will help pinpoint which genetic alterations increase the risk of having a certain disease, or the likelihood that your children will have the disease."


'/>"/>

Contact: Debra Kain
ddkain@ucsd.edu
619-543-6163
University of California - San Diego
Source:Eurekalert

Related medicine news :

1. Stanford researchers find culprit in aging muscles that heal poorly
2. UCLA researchers identify markers that may predict diabetes in still-healthy people
3. Mayo Clinic researchers discover new diagnostic test for detecting infection in prosthetic joints
4. Bipolar disorder relapses halved by Melbourne researchers
5. Cell that triggers symptoms in allergy attacks can also limit damage, Stanford researchers find
6. High and mighty: first common height gene identified by researchers behind obesity gene finding
7. Researchers estimate about 9 percent of US children age 8 to 15 meet criteria for having ADHD
8. Majority of 2.4 Million U.S. Children With ADHD Not Diagnosed or Consistently Treated, According to New Gold Standard Study by Cincinnati Childrens Researchers
9. Researchers develop long-lasting growth hormone
10. Jefferson immunology researchers halt lethal rabies infection in brain
11. Purdue researchers develop technology to detect cancer by scanning surface veins
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/19/2017)... ... , ... Springfield, Vermont-based law firm of Brady/Callahan has released a new Personal ... An Experienced Personal Injury Attorney, " the article offers insight for people who have ... says. if someone is injured due to another person's negligence, they may ...
(Date:5/19/2017)... FL (PRWEB) , ... May 19, 2017 , ... ... asset protection services and retirement planning assistance to families and business owners in ... Sclerosis Society to advocate for MS sufferers and their families. , Multiple sclerosis ...
(Date:5/19/2017)... ... May 19, 2017 , ... ... announced a sponsorship and speaking session at the 7th Annual ET6 Exchange ... hosted enterprise mobility and digital transformation conference whose expressed purpose is to connect ...
(Date:5/19/2017)... ... 2017 , ... ML Billing, 2016 Billing Company of the Year , ... large group practices, is pleased to announce their 30th anniversary. Not only has ML ... in all aspects of full-service medical billing. This has allowed ML Billing to excel ...
(Date:5/19/2017)... ... May 18, 2017 , ... ... who served eight American presidents of both political parties, will become the 9th ... General Colin L. Powell, USA (Retired) as Chairman in May, 2018. , Secretary ...
Breaking Medicine News(10 mins):
(Date:5/10/2017)... , May 10, 2017 Radiology has become ... its costs have also spiraled to the number one ... to radiology than ever before as the most complete ... a patient with lower back pain an MRI may ... reason for pain, resulting in entirely different treatment protocols.  ...
(Date:5/9/2017)... PORTLAND, Ore. , May 9, 2017 /PRNewswire/ ... company that provides technology solutions to improve the ... reported financial results for the first quarter ended ... that our products enable our customers to identify ... them to intervene before events like heart attacks ...
(Date:5/6/2017)...  Hill-Rom Holdings, Inc. (NYSE: HRC), has begun a ... to its Welch Allyn campus. The ... more than 100 new jobs to Central ... a significant presence for more than 100 years. Hill-Rom,s ... large portion of which will be R&D and engineering ...
Breaking Medicine Technology: