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:

(Date:6/25/2016)... ... June 25, 2016 , ... On Friday, June 10, Van Mitchell, ... at Work award to iHire in recognition of their exemplary accomplishments in worksite health ... annual Maryland Workplace Health & Wellness Symposium at the BWI Marriott in Linthicum Heights. ...
(Date:6/24/2016)... ... June 24, 2016 , ... June 19, 2016 is ... associated with chronic pain and the benefits of holistic treatments, Serenity Recovery Center ... suffering with Sickle Cell Disease. , Sickle Cell Disease (SCD) is a disorder of ...
(Date:6/24/2016)... ... June 24, 2016 , ... ... micro-osteoperforation for accelerated orthodontic treatment. Dr. Cheng has extensive experience with all areas ... , AcceleDent, and accelerated osteogenic orthodontics. , Micro-osteoperforation is a revolutionary adjunct ...
(Date:6/24/2016)... ... June 24, 2016 , ... ... Clinical Decision Making in Emergency Medicine conference in Ponte Vedra Beach, FL. The ... published in Emergency Medicine Practice and Pediatric Emergency Medicine Practice. , ...
(Date:6/24/2016)... ... ... National recruitment firm Slone Partners is pleased to announce the placement of ... President of North American Capital Sales at HTG Molecular . , ... the commercialization of the HTG EdgeSeq system and associated reagents in North America. , ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... , June 24, 2016 ... has announced the addition of the " Global ... This report ... provides an updated review, including its applications in various ... total market, which includes three main industries: pharmaceutical and ...
(Date:6/24/2016)... , June 24, 2016  American Respiratory Labs (ARL), a ... now able to perform sophisticated lung assessments in patients, homes, thanks ... Inc. Patients are no longer limited to having ... PRO ® , ARL patients like Jeanne R. of ... the comfort of her own home. ...
(Date:6/24/2016)... NAMUR , Belgium , ...  (NYSE MKT: VNRX), today announced the appointment of ... Board of Directors as a Non-Executive Director, effective ... the Company,s Audit, Compensation and Nominations and Governance ... Board, Dr. Futcher will provide independent expertise and ...
Breaking Medicine Technology: