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:10/12/2017)... ... October 12, 2017 , ... The American College of Medical ... Friedman, PhD, FACMI, during the Opening Session of AMIA’s Annual Symposium in Washington, D.C. ... honor of Morris F. Collen, a pioneer in the field of medical informatics, this ...
(Date:10/12/2017)... ... 12, 2017 , ... Dr. Parsa Mohebi, the Los Angeles ... to the newly revamped Cosmetic Town journal section, featuring articles written ... known as Follicular Unit Extraction (FUE). , Dr. Mohebi says “I ...
(Date:10/12/2017)... Wesley Chapel, FL (PRWEB) , ... October 12, 2017 , ... ... Chapel is holding a treadmill relay – Miles by Moonlight to raise money for ... by donating $300 or more. , Teams will work together to keep their ...
(Date:10/12/2017)... ... October 12, 2017 , ... In the United States, ... In some states—like New York, New Jersey, Massachusetts, Texas, Virginia, Connecticut, and California—the ... have extremely low property-tax rates, which contributes to the relatively lower cost of ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... enhanced Pepper Flow promotional review platform at the Promotional Review Committee Compliance ... capabilities help marketers streamline the medical, legal, and regulatory review (MLR) process ...
Breaking Medicine News(10 mins):
(Date:10/2/2017)... Fla. , Oct. 2, 2017  AllianceRx Walgreens ... company formed by Walgreens and pharmacy benefit manager Prime ... its new brand, which included the unveiling of new ... , as well as at a few other ... the new brand to patients, some of whom will ...
(Date:9/28/2017)... Hill-Rom Holdings, Inc. (NYSE: HRC), will host its fiscal ... Friday, November 3, 2017, beginning at 7:00 a.m. (CDT) ... a.m. (CDT) / 9:30 a.m. (EDT). In ... guidance for 2018, Hill-Rom executives will also highlight the ... long-range financial outlook through 2020. ...
(Date:9/27/2017)... CAESAREA, Israel and NEW YORK , Sept. ... company with mobile health and big data solutions, today announced that its ... today. Please check your local TV listings for when The Dr. Oz ... ... ninth season this month. ...
Breaking Medicine Technology: