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)... Aliso Viejo, California (PRWEB) , ... June 27, 2016 , ... ... that are fully customizable inside of Final Cut Pro X," said Christina Austin - ... with another unique style. Final Cut Pro X users can now reveal ...
(Date:6/27/2016)... , ... June 27, 2016 , ... TopConsumerReviews.com recently awarded ... Eyeglasses . , Millions of individuals in the United States and Canada wear ... a way to both correct vision and make a fashion statement. Even celebrities use ...
(Date:6/26/2016)... Cary, North Carolina (PRWEB) , ... June 26, 2016 , ... ... the release of a new product that was developed to enhance the health of ... harvested for centuries. , The two main herbs in the PawPaws Cat Kidney ...
(Date:6/25/2016)... ... , ... Austin residents seeking Mohs surgery services, can now turn to Dr. ... Russell Peckham for medical and surgical dermatology. , Dr. Dorsey brings specialization to include ... in Mohs Micrographic Surgery completed by Dr. Dorsey was under the direction of Glenn ...
(Date:6/25/2016)... ... ... As a lifelong Southern Californian, Dr. Omkar Marathe earned his Bachelors in ... School of Medicine at UCLA. He trained in Internal Medicine at Scripps Green Hospital ... at the UCLA-Olive View-Cedars Sinai program where he had the opportunity to train in ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... , June 23, 2016 Research and ... Devices Medical Market Analysis 2016 - Forecast to 2022" ... The report contains up to date financial data derived ... Assessment of major trends with potential impact on the market ... of market segmentation which comprises of sub markets, regional and ...
(Date:6/23/2016)... 2016 Research and Markets has announced ... report to their offering. ... a favourable commercial environment for MedImmune to enter. The US ... will serve to drive considerable growth for effective anti-influenza medications. ... cap sales considerably, but development is still in its infancy. ...
(Date:6/23/2016)... , June 23, 2016 , ... on Thursday, July 7, 2016 , , , , LOCATION: ... , , , , EXPERT PANELISTS:  , , , ... Senior Industry Analyst, Christi Bird; Senior Industry Analyst, Divyaa Ravishankar and ... The global pharmaceutical industry is witnessing an exceptional era. ...
Breaking Medicine Technology: