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:1/20/2017)... (PRWEB) , ... January 20, 2017 , ... Yisrayl Hawkins, Pastor and Overseer at The ... bible in homes across the world. Yisrayl says this generation is a time like no ... to turn to the Bible. , Yisrayl says he does not want to sound like ...
(Date:1/20/2017)... ... January 20, 2017 , ... Doctor C LLC, a company ... January ECRM trade show to continue the marketing and distribution of its product, The ... for providing 400 percent better absorption than traditional vitamin C supplements. At the trade ...
(Date:1/20/2017)... (PRWEB) , ... January 20, 2017 , ... Lice Troopers, ... lice cases in families with school-aged children since the holiday season. , “It ... holidays with their families, sharing hugs and taking photos, which is the head-to-head gateway ...
(Date:1/20/2017)... FL (PRWEB) , ... January 20, 2017 , ... International ... of nutritional and bodybuilding supplements, announced it attended the January ECRM trade show in ... bodybuilder and nutritional scientist who was determined to create a line of products that ...
(Date:1/20/2017)... California (PRWEB) , ... January 20, 2017 , ... "TransFlare ... to use inside of Final Cut Pro X," said Christina Austin - CEO of ... the RED Dragon. Utilizing the Dragon Sensor,TransFlare 4K Mystique lens flare and light leak ...
Breaking Medicine News(10 mins):
(Date:1/19/2017)... 19, 2017 Incretin Mimetics/GLP-1 Agonists, SNDRIs, Lipase ... The global anti-obesity drugs market is expected to ... the forecast period and CAGR of 38.7% in the second half ... a CAGR of 32.8% from 2016 to 2027. The market is ... $24,063 million in 2027. ...
(Date:1/19/2017)... -- Accuray Incorporated (Nasdaq: ARAY ) announced ... set the bar for excellence in customer satisfaction. The ... rating among radiation treatment delivery systems in the U.S., ... Briefing™. The most recent ratings trend also shows Accuray ... for 11 of the past 12 quarters. ...
(Date:1/19/2017)... LONDON , January 19, 2017 ... Grothey ; European Oncology & Haematology, 2016;12(Suppl 2):3-8; ... ... http://photos.prnewswire.com/prnh/20151014/276718LOGO) Published recently in ... the peer-reviewed journal from touchONCOLOGY, an article by ...
Breaking Medicine Technology: