Navigation Links
Genetic Cause of Inherited Eye Diseases Identified

Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases. The investigators hope to gain a clearer understanding of what goes wrong at the most basic level in these diseases that cause blindness and other disorders.

Specifically, they have identified and measured the types and amounts of proteins in the light-sensing parts of the eyes retina. These light-sensitive structures, called photoreceptor sensory cilia, enable the rod and cone cells of the retina to detect light. While the proteins of cilia in single-celled organisms have been studied, this is the first time that a comprehensive description of the proteins of a mammalian cilium used for movement and sensing has been determined.

We want to understand how cilia work normally and how their function is disrupted in disease, because their dysfunction is such an important cause of disease, says senior author Eric A. Pierce, MD, PhD, Associate Professor of Ophthalmology at the F.M. Kirby Center for Molecular Ophthalmology at Penn. One of the first steps to achieve this is to put together a complete parts list. Now that we have that, we can figure out how all 2000 proteins weve identified fit together correctly.

Cilia, specialized structures that extend from cells, have recently taken the spotlight in studying genetic diseases. They are commonly used by cells for movement or sensory purposes, and, in many cases with mammals, have been thought to be remnants of evolution without much purpose. But new research has shown that mutations in genes that encode the proteins of cilia are common causes of a host of genetic diseases, including inherited retinal diseases and polycystic kidney disease.

Cilia diseases can also affect multiple organ systems in such disorders as Bardet-Biedl Syndrome, which causes kidney disea se, obesity, polydactyly, diabetes, and retinal degeneration; Senior-Loken Syndrome, which causes kidney disease and retinal degeneration; Joubert Syndrome, which causes neurological disease, kidney disease, and retinal degeneration; Usher Syndrome, which causes deafness and blindness; and Meckel Syndrome, which causes kidney disease and neural tube defects.

Lead author Qin Liu, MD, PhD, Research Assistant Professor, and Pierce collaborated with a team at The Wistar Institute led by David Speicher to perform the analyses for this study. The researchers used mass spectrometry to identify and measure the amounts of proteins in mouse photoreceptor sensory cilia. They found many proteins in the cilia that had not been identified in photoreceptors before. This includes proteins involved in intraflagellar transport, which is a process that moves materials from the cell body into the cilia. Mutations in proteins associated with this transport system lead to a number of cilia-related diseases.

The investigators also found 60 proteins encoded by genes on chromosomes implicated in 23 inherited cilia-related disorders. Armed with this knowledge, researchers hope to be able to more quickly find the exact genetic mutations that cause these 23 cilia diseases, which include eye and kidney diseases, among others.

Pierce is a pediatric ophthalmologist who specializes in caring for children with inherited retinal degenerations. He says that about half of his patients with degenerative eye diseases have a type of disease that can be identified according to its genetic mutation. He believes that this research will help identify the genetic causes behind the other half of his patients conditions.

Were narrowing the field, says Pierce. This research in and of itself cant find a cure, but its a great start because it tells you what proteins to study.


'"/>




Related medicine news :

1. Genetic Dentistry: Your Dentist may be able to grow you a new set of Teeth.
2. Genetic influence in menopause
3. Genetics and cholesterol levels
4. Genetics helps in attacking cancer
5. Genetic disorder related with sleep patterns
6. Genetic innovation
7. Genetic tests for cancer
8. Genetic indicates memory
9. Genetic mutation to the fountain of youth discovered
10. Genetic differences found between Male and Female brains
11. Alcoholism Influenced By Both Genetics & Family Environment
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:5/25/2016)... ... 25, 2016 , ... “We are very pleased to welcome ... “Brad brings significant experience advising healthcare provider clients throughout the country. As the ... of MACRA, we believe that continuing to add professionals with deep experience from ...
(Date:5/25/2016)... ... 2016 , ... Serenity Recovery, a holistic treatment center for ... the many supplemental program options offered at their rehabilitation facility, this time focusing ... Belt in the Shorin-ryu style of Karate that originated in Okinawa, Japan, and ...
(Date:5/25/2016)... Angeles, CA (PRWEB) , ... May 25, 2016 , ... ... fans and potential patients, according to an article published May 13th on ... patients are comfortable with having snippets of their procedures broadcast to more than 800,000 ...
(Date:5/25/2016)... Indianapolis, Indiana (PRWEB) , ... May 25, 2016 ... ... statewide Network Service Provider, announces that Lake City Bank has selected IFN as ... help manage carrier access, resulting in increased efficiencies and reduced costs. ...
(Date:5/25/2016)... ... May 25, 2016 , ... CloudLIMS, joins an elite number of companies ... Solution Providers list of 2016 by CIOReview. , In a deliberate session with the ... Solution Providers 2016 has been concluded with. The positioning is based on evaluation of ...
Breaking Medicine News(10 mins):
(Date:5/24/2016)... May 24, 2016 Niederländische ... gebracht, die es Ärzten erlaubt, ihre Expertise weltweit ... MDLinking kombiniert Live Streaming mit einer Instant-Messaging-Funktion und ... kommunizieren. Mediziner in Europa, Afrika, Asien und den ... für die Plattform registriert. Information und ...
(Date:5/24/2016)... May 24, 2016  Diana Russell suffers from a ... from the inside out.  This disease has put her ... her children and grandchildren to leave her home.  Because ... family cannot haul the wheelchair.  So if there is ... and Diana is left to wait for the bus. ...
(Date:5/24/2016)...  Joe Marziani has joined VMS BioMarketing as senior vice president of sales, announced ... new role, Marziani will lead the company,s business development and sales team, exploring new ... Photo - http://photos.prnewswire.com/prnh/20160523/371089 ... ... ...
Breaking Medicine Technology: