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:5/28/2016)... ... May 28, 2016 , ... May 26, 2016- In ... Arts Fighting Challenge with theme event of “K Warriors” on June 4, 2016 at ... , The event is sponsored and hosted by Shaolin Institute and sanctioned by ...
(Date:5/27/2016)... , ... May 27, 2016 , ... Two director-level employees ... YWCA Tribute to Women and Industry (TWIN) 2016 honorees. The award recognizes businesswomen ... For this year, Geri Boone, Director of the MLTSS (Managed Long-Term Services and Supports) ...
(Date:5/27/2016)... NY (PRWEB) , ... May 27, 2016 , ... ... casual readers, this installment is bolstered by inspiring human-interest stories, courtesy of awareness-driven ... tech within the industry, from leading advocates, associations and industry leaders such as ...
(Date:5/27/2016)... ... May 27, 2016 , ... ... students studying complementary medicine. Allison Outerbridge is this year’s Life University ... May 18 at the university’s Student Leadership Awards ceremony. , Outerbridge is approaching ...
(Date:5/26/2016)... ... May 26, 2016 , ... Cabot Corporation, Pfizer, ... respirators, according to court documents and SEC filings. A jury has returned ... v. American Optical Corporation, Case No. BC588866, Los Angeles County, California. The jury ...
Breaking Medicine News(10 mins):
(Date:5/27/2016)... 27, 2016 Kitov ... focused on late-stage drug development, today announced the ... of pivotal batches required for registration of KIT-302 ... This follows Kitov,s announcement in December ... met its primary efficacy endpoint. "We ...
(Date:5/26/2016)... 2016 TARE (Transarterial Radio-embolization) ... Savings and Overall Decreased Use of Hospital ... international specialist healthcare company, has today announced the ... Meeting of ISPOR (International Society for Pharmacoeconomics and ... (HCC) using yttrium-90 glass microspheres is associated with ...
(Date:5/25/2016)... HILDEN , Deutschland und GERMANTOWN, ... Zusammenarbeit mit Therawis bedient ... Entscheidungen bei Brustkrebs   QIAGEN N.V. ... QIA) gab heute bekannt, eine Lizenz- und Entwicklungsvereinbarung ... prädiktiver Assays für die Onkologie eingegangen zu sein. ...
Breaking Medicine Technology: