Navigation Links
Researchers find new insights into inherited retinal disease

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
University of California - San Diego

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:
(Date:11/24/2015)... ... November 24, 2015 , ... ... been designated an Aetna Institute of Quality® Bariatric Surgery Facility for treating individuals ... and cost of health care services available to its members to help them ...
(Date:11/24/2015)... IL (PRWEB) , ... November 24, 2015 , ... Dr. Rodney E. Willey , ... His new venture, Koala Center for Sleep Disorders, provides treatment for snoring and sleep ... who have opened a Koala Center for Sleep Disorders in the US, one of four ...
(Date:11/24/2015)... Diego, CA (PRWEB) , ... November 24, 2015 ... ... the Silver&Fit® Exercise and Healthy Aging Program have announced their ... referral service. , “American Specialty Health Fitness is proud to have the MFN ...
(Date:11/24/2015)... N.Y. (PRWEB) , ... November 24, 2015 , ... Autism ... Tuesday, the global movement driven by social media and the generosity of people around ... then encourage their social media networks to give – and share the personal stories ...
(Date:11/24/2015)... Miami, FL (PRWEB) , ... November 24, 2015 ... ... manufacturer and engineer of patented products, announces Innovative Blending, a household invention that ... go. , "The Juice & Smoothie Bars market is worth $2 billion," says ...
Breaking Medicine News(10 mins):
(Date:11/24/2015)... NEWS, Va. , Nov. 24, 2015  DILON ... they have signed an agreement for DILON to distribute ... geographies across the globe. The signing of this distribution agreement ... Discovery NM750b Molecular Breast Imaging system and is considered ... to provide better healthcare solutions for clinicians and their ...
(Date:11/24/2015)... , Nov. 24, 2015 Avery Biomedical ... is pleased to announce the appointment of Anders ... Dr. Jonzon ... cardiology at Children,s Hospital, Uppsala University, Uppsala and Children,s ... 1984-1986, he was a fellow at the Cardiovascular Institute ...
(Date:11/24/2015)... LAUSANNE and BERN, Switzerland ... SA, the ARTORG Center for Biomedical Engineering Research of ... and the Division of Endocrinology, Diabetes and Clinical Nutrition ... announce the start of an exclusive collaboration to develop ... control algorithm for the personalised delivery of insulin for ...
Breaking Medicine Technology: