Navigation Links
Mutations in 2 Genes Linked to Rare Autism-Related Disorder
Date:1/26/2012

THURSDAY, Jan. 26 (HealthDay News) -- Newly discovered mutations in two adjacent genes cause a rare genetic brain condition called Joubert syndrome, according to a new study.

People with Joubert syndrome have malformation or underdevelopment of the cerebellum and brainstem, resulting in a range of physical and mental disabilities such as poor muscle control and mental retardation.

As many as four in 10 people with Joubert syndrome meet the criteria for an autism diagnosis and other neurocognitive disorders, according to background information in a news release about the research.

In the study, a team led by University of California, San Diego School of Medicine researchers found that mutations in two adjacent genes -- TMEM216 and TMEM138 -- cause Joubert syndrome.

"It is extraordinarily rare for two adjacent genes to cause the same human disease," team leader Dr. Joseph Gleeson, a professor of neurosciences and pediatrics, said in the university news release. "The mystery that emerged from this was whether these two adjacent, non-duplicated genes causing indistinguishable disease have functional connections at the gene or protein level."

The researchers conducted evolutionary analysis and concluded that the two genes became joined end-to-end about 260 million years ago. The connected genes then evolved simultaneously and became regulated by the same transcription factors, the authors reported in the study published online Jan. 26 in Science Express.

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about Joubert syndrome.

-- Robert Preidt

SOURCE: University of California, San Diego, news release, Jan. 26, 2012


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved  

Page: 1

Related medicine news :

1. Gene Mutations May Boost Ovarian Cancer Survival: Study
2. Gene Mutations Linked to Thyroid Cancer Risk: Study
3. Massive DNA search uncovers new mutations driving blood cancer
4. Panel of melanoma mutations opens door to new treatment possibilities
5. Linking of mutations in 12 genes to ovarian cancer may lead to more effective prevention
6. Newly Found Gene Mutations May Aid Heart Treatments
7. Women With BRCA Mutations Get Cancer Diagnosis Earlier Than Before
8. Women who inherit BRCA gene mutations develop cancer earlier than their ancestors
9. Gene Mutations Identified in Uterine Fibroids
10. ADHD, Autism May Sometimes Share Gene Mutations
11. Elusive gene mutations found for malignant brain tumor
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Mutations in 2 Genes Linked to Rare Autism-Related Disorder
(Date:6/27/2016)... ... , ... "FCPX editors can now reveal their media with growing colorful split ... Austin - CEO of Pixel Film Studios. , ProSlice Color brings the split ... now reveal the media of their split screens with growing colorful panels. , ProSlice ...
(Date:6/27/2016)... ... June 27, 2016 , ... TopConsumerReviews.com recently awarded their highest five-star rating to ... of individuals in the United States and Canada wear eyeglasses. Once considered to be ... vision and make a fashion statement. Even celebrities use glasses as a way of ...
(Date:6/26/2016)... ... 26, 2016 , ... PawPaws brand pet supplements owned by Whole ... enhance the health of felines. The formula is all-natural and is made from Chinese ... PawPaws Cat Kidney Support Supplement Soft Chews are Astragalus Root Extract and ...
(Date:6/25/2016)... (PRWEB) , ... June 25, 2016 , ... Austin residents ... the American College of Mohs Surgery and to Dr. Russell Peckham for medical and ... highly effective treatment for skin cancer. The selective fellowship in Mohs Micrographic Surgery completed ...
(Date:6/25/2016)... ... June 25, 2016 , ... As a lifelong Southern Californian, Dr. Omkar ... M.D from the David Geffen School of Medicine at UCLA. He trained in Internal ... complete his fellowship in hematology/oncology at the UCLA-Olive View-Cedars Sinai program where he had ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)...   Bay Area Lyme Foundation , collaborating ... for Tick Borne Illness , Harvard Medical School ... Medicine, University of California, Berkeley, and the Veterans ... finalists of Lyme Innovation , the first ... scientists, clinicians, researchers, entrepreneurs, and investors from several ...
(Date:6/24/2016)... and SAN CLEMENTE, Calif. , June 24, 2016 ... mobile pulmonary function testing company, is now able to perform sophisticated ... by ndd Medical Technologies , Inc. Patients ... hospital-based labs.  Thanks to ndd,s EasyOne PRO ® , ARL patients ... get any needed testing done in the comfort of her own ...
(Date:6/24/2016)... June 24, 2016  Arkis BioSciences, a leading ... and more durable cerebrospinal fluid treatments, today announced ... Series-A funding is led by Innova Memphis, followed ... other private investors.  Arkis, new financing will accelerate ... the market release of its in-licensed Endexo® technology. ...
Breaking Medicine Technology: