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:2/27/2017)... ... 2017 , ... Miro is the ultimate smart media center that offers a ... TV shows and much more apps for user exploration. Its innovative acoustic design with ... 1280 x 720 provides crisp images with remarkable clarity and color. The WiFi connection ...
(Date:2/27/2017)... ... 27, 2017 , ... Sunshine Coast Health Centre (SCHC), one ... at https://www.sunshinecoasthealthcentre.ca/ , is proud to announce the addition of a registered ... Centre's commitment to innovation in drug rehab and alcohol treatment strategies beyond a ...
(Date:2/27/2017)... (PRWEB) , ... February 27, 2017 , ... New Jersey ... rates, among all types and genders. And the need for advanced services is growing. ... and its top-rated cancer care program, in collaboration with their non-profit partners in their ...
(Date:2/26/2017)... ... February 26, 2017 , ... This is ... the world’s first to be ISO/IEC 17025:2005 INAB accredited for Der p 1 ... 17025:2005 is the globally recognised standard that sets out requirements for the technical ...
(Date:2/26/2017)... ... 2017 , ... IndustryArchive.Org . is announcing a new way for B2B ... now only pay for B.A.N.T. quality sales leads based on the Sellers decision to ... new reality that B2B buyers are controlling the sales process via the Internet and ...
Breaking Medicine News(10 mins):
(Date:2/27/2017)... 27, 2017   Royal Philips (NYSE: ... leader in health technology, today announced 510(k) clearance ... to market its ElastQ Imaging capability, further expanding ... systems. ElastQ Imaging enables simultaneous imaging of tissue ... for the diagnosis of various liver conditions. With ...
(Date:2/27/2017)... , Feb. 27, 2017  RegeneRx Biopharmaceuticals, Inc. ... drug development company focused on tissue protection, repair ... RGN-137, GtreeBNT Co., Ltd., received a positive response ... clinical trial design for RGN-137 to treat epidermolysis ... gel that incorporates Thymosin beta 4 ("Tß4") as ...
(Date:2/27/2017)... BioPharma Corp. (CTI BioPharma) (NASDAQ and MTA: CTIC) today announced ... President and Chief Executive Officer (CEO) and member of the ... Richard Love , interim President and CEO who will ... Craig has over 20 years of experience in hematology, oncology ... Europe . "On behalf of CTI BioPharma,s ...
Breaking Medicine Technology: