Navigation Links
Boffins Identify Fifth Gene Behind Joubert Syndrome

An international team of researchers has identified a new genetic cause for Joubert syndrome (JS), an inherited condition that affects development of the cerebellum and brainstem-the structures in the brain that coordinate movements and regulate basic functions such as breathing, swallowing, heart rate and consciousness.

This is the fifth gene that has been found to have association with Joubert syndrome. Researchers at Seattle Children's Hospital Research Institute, the University of Washington School of Medicine, and Radboud University in Nijmegen, say that their study confirms key information about the genetic changes that cause JS and cellular structures called cilia, conclusively placing JS in a class of recently identified ciliopathic conditions.

Although the disease is statistically rare, the researchers believe that their findings are important. They say that the discovery of mutation in the gene (RPGRIP1L) now paves the way for definitive DNA testing that can more conclusively diagnose JS in some patients, and also identify asymptomatic carriers who might unknowingly pass the condition to their future children.

Apart from identifying a fifth gene for JS, the study also sheds light on the role of cilia in this disease and possibly others. It found that defects in the functions of cilia, tiny projections on cell surfaces that allow the inside of cells to communicate with their outside environment, lead to various newly identified syndromes called ciliopathies.

Published in the journal Nature Genetics, the study describes a genetic change that prevents interaction between two particular cilia proteins, presumably disrupting cilia function and causing JS. It links JS to other diseases like Leber congenital amaurosis, Senior-Loken syndrome, and nephronophthisis, the most common genetic cause of kidney failure in children. All these conditions share disruptions in the protein networks of cilia.
The study also exemplifies the power of international collaborative research, an increasingly important trend in biomedical discoveries.


'"/>




Related medicine news :

1. Fizzy Logic For A Perfect Drink: Courtesy Boffins
2. Boffins Find Link Between Common Sleep Disorder and Hypertension
3. Laboratory Testing Can Identify Risk of Pre-Term Labor and Delivery
4. Identifying bacteria made amiable
5. Identifying brain lesions with impaired consciousness
6. Identifying Virus Found To Be Essential for HIV Patients
7. Identifying Those At Risk For Diabetes
8. Identifying Predictors Of Anthrax
9. Identifying The Risks Of Developing Schizophrenia
10. Identifying Irregular Heart Beats
11. Identifying Those At Risk For Diabetes
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/24/2016)... San Diego, CA (PRWEB) , ... June 24, 2016 , ... ... up with the American Cancer Society and the Road To Recovery® program to drive ... care to seniors and other adults to ensure the highest quality of life and ...
(Date:6/24/2016)... Norcross, Georgia (PRWEB) , ... June 24, 2016 ... ... Year” awards today at the Clinical Decision Making in Emergency Medicine conference in ... who have authored journal articles published in Emergency Medicine Practice and ...
(Date:6/24/2016)... ... 2016 , ... Strategic Capital Partners, LLC (SCP) in concert ... capital for emerging technology companies. SCP has delivered investment events and professional ... than a million dollars of capital investment for five companies. The ...
(Date:6/24/2016)... ... June 24, 2016 , ... Today, ... stem (iPS) cells and other difficult to transfect cells, announces its launch of ... PluriQ™ G9™ Gene Editing System is a complete system for culturing and ...
(Date:6/24/2016)... ... June 24, 2016 , ... To succeed under value-based payments, ... are unsure how to move forward, given the need to sustain current operations. ... tailored to an organization’s specific needs. , PYA Principal Martie Ross states, “Healthcare ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... , June 23, 2016 Leading ... that address medical conditions resulting from a breakdown ... has appointed Greg Doyle as chief ... Leading BioSciences, executive management team and board of ... chief financial officer. He will provide continued leadership ...
(Date:6/23/2016)... June 23, 2016 Research and ... in Europe 2016 Edition: The New Global Agenda " ... OTC Distribution in Europe - ... explores and tracks change. It identifies the driving factors coming ... the consumer healthcare industry now and in the future. It ...
(Date:6/23/2016)... June 23, 2016 The ... the development of combination therapies trend is expected ... treatment of CLL were available only in the ... are chlorambucil in combination with prednisone, and a ... a growing trend of developing combination therapies to ...
Breaking Medicine Technology: