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:2/8/2016)... ... 2016 , ... The Valentine’s Season is famous for gift giving with flowers, chocolates and other ... loved. This year, for more than 5.6 million Americans suffering with Alzheimer’s, those store ... to remind them of the lives they’ve led and the people they’ve touched. ...
(Date:2/8/2016)... ... February 08, 2016 , ... Steve Helwig & Associates Insurance & ... community enrichment program, has teamed up with Citizens Opposed to Domestic Abuse in support ... abuse. To support all those victimized by the fear of violence in their own ...
(Date:2/8/2016)... ... February 08, 2016 , ... Remember the old saying “rub some dirt on ... A~, author of “Calcium Bentonite Clay” the health benefits of integrating clay into a ... the body. , A former motivational speaker, Perry A~ has since dedicated her life ...
(Date:2/8/2016)... , ... February 08, 2016 , ... ... to share this important news! AHCC and the Home Health and Hospice ICD-10 ... CMS' designee for official ICD coding guidance and clarifications, to address concerns over ...
(Date:2/8/2016)... ... ... According to research by the National Association of Dental ... certified or obtain continuing education. To increase patient awareness of the lack of ... to inform dentists and patients about the possible lack of skills and knowledge ...
Breaking Medicine News(10 mins):
(Date:2/8/2016)...  Labvantage Lx, a newcomer to the dietary ... enhancement product, EnduramenT. Setting a new standard in ... patented biomedical breakthrough molecule that promotes the controlled ... for many biological functions including erectile function. ... the use of prescription medications, scientists working on ...
(Date:2/8/2016)... and FAIRFIELD, N.J. , Feb. ... Medimetriks Pharmaceuticals, Inc. (Medimetriks) today announced that they have ... and commercialization rights for OPA-15406 in the U.S. and ... provides manufacturing rights.  OPA-15406 is a topical, non-steroidal phosphodiesterase ... dermatitis. --> --> ...
(Date:2/8/2016)... , Feb. 8, 2016  Ventana Medical ... that hundreds of the world,s top oncologists, pathologists, ... at the 12 th annual Tucson Symposium ... evolving theories and new outcomes in cancer research ... patients, lives. Thomas Grogan , annually ...
Breaking Medicine Technology: