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:3/3/2015)... VIENNA, VA (PRWEB) March 03, 2015 ... Nutcase, the Portland-based maker of bike, skate, snow, water, ... raise awareness about brain injury. The partnership kicks off ... their website at http://www.nutcasehelmets.com to BIAA during ... Awareness Month. , Each year BIAA leads the nation ...
(Date:3/3/2015)... IL (PRWEB) March 03, 2015 US ... high efficiency air purification systems, is pleased to announce that ... a brief supply interruption related to the west coast port ... is just around the corner. , The ... are expected to slow fourth quarter economic growth by as ...
(Date:3/3/2015)... York, NY (PRWEB) March 03, 2015 ... that allege a metal-on-metal version of the artificial ... debilitating complications continue to move forward in the ... Northern District of Texas. According to the most ... on March 2, 2015, 7,350 Pinnacle hip replacement ...
(Date:3/3/2015)... Georgia (PRWEB) March 03, 2015 With ... University’s Georgia Health Policy Center (GHPC) has been named ... Foundation (RWJF) to support the Bridging for Health: Improving ... helping regions, states and communities improve health and reduce ... The grant will support the work of the center ...
(Date:3/3/2015)... Dallas plastic surgeon , Dr. Rod ... Dallas Rhinoplasty Symposium, to be held March 6th to ... attended by plastic surgeons and otolaryngologists from around the ... on current topics, emerging techniques, best practices, and advances ... , The symposium will cover a diverse array of ...
Breaking Medicine News(10 mins):Health News:Brain Injury Association of America Partners with Nutcase Helmets to Raise Awareness About Brain Injury 2Health News:Rabbit Air Purifiers Back In Stock at US Air Purifiers LLC 2Health News:Rabbit Air Purifiers Back In Stock at US Air Purifiers LLC 3Health News:DePuy Pinnacle Lawsuit News: Bernstein Liebhard LLP Comments on Growing Pinnacle Hip Litigation 2Health News:DePuy Pinnacle Lawsuit News: Bernstein Liebhard LLP Comments on Growing Pinnacle Hip Litigation 3Health News:DePuy Pinnacle Lawsuit News: Bernstein Liebhard LLP Comments on Growing Pinnacle Hip Litigation 4Health News:Robert Wood Johnson Foundation Names Georgia Health Policy Center National Center for Bridging for Health Initiative 2Health News:Dr. Rod Rohrich to Chair 32nd Annual Dallas Rhinoplasty Symposium 2Health News:Dr. Rod Rohrich to Chair 32nd Annual Dallas Rhinoplasty Symposium 3
... Company Returns to Commercial Operations, SEATTLE, Dec. ... today announced that it has completed its,acquisition of ... responsibility for marketing, sales, and development of the ... be sold outside the United,States by Bayer Schering ...
... A lot of Americans take advantage of,the fresh ... weight and live,healthier. There may be a million weight ... focus on healthy long-term lifestyle changes., Listen to ... journalists can access video, audio, text, graphics and,photos for ...
... the heart, can lead to halting of cancer therapy, ... Men undergoing hormone therapy for prostate cancer who take ... higher risk of dying, new research suggests. , Apparently, ... liver-function test levels. The end result is the man ...
... OTTAWA and HOUSTON, Dec. 26 Natural Nutrition,Inc. ... today,that the company has launched The Long Life ... with an international,television campaign. The TV ads will ... beginning the week following Christmas Day., Tim ...
... Md., Dec. 26 Medifast, Inc.,(NYSE: MED ) ... New York Stock,Exchange (the "NYSE") that it is not ... is considered below criteria by,the NYSE because over a ... than $75 million and the Company,s most recently,reported shareholders, ...
... Opportunities for People of All Ages in their Pursuit of Health ... Well-Being in Spirit, Mind ... President and CEO Neil,Nicoll today issued a New Year,s Resolution for ... studies,related to the nation,s ongoing lifestyle health crisis. Since taking on,the ...
Cached Medicine News:Health News:Cell Therapeutics, Inc. (CTI) Completes Acquisition of Lymphoma Drug Zevalin(R) From Biogen Idec for Sales and Marketing in the United States 2Health News:Cell Therapeutics, Inc. (CTI) Completes Acquisition of Lymphoma Drug Zevalin(R) From Biogen Idec for Sales and Marketing in the United States 3Health News:Cell Therapeutics, Inc. (CTI) Completes Acquisition of Lymphoma Drug Zevalin(R) From Biogen Idec for Sales and Marketing in the United States 4Health News:Cell Therapeutics, Inc. (CTI) Completes Acquisition of Lymphoma Drug Zevalin(R) From Biogen Idec for Sales and Marketing in the United States 5Health News:Aspirin, Hormone Therapy Combo Can Shorten Lives of Prostate Cancer Patients 2Health News:Aspirin, Hormone Therapy Combo Can Shorten Lives of Prostate Cancer Patients 3Health News:Natural Nutrition Launches Long Life Cocktail with International Television Ad Campaign 2Health News:Medifast Receives Notice Regarding NYSE Listing 2Health News:Medifast Receives Notice Regarding NYSE Listing 3Health News:Medifast Receives Notice Regarding NYSE Listing 4Health News:Medifast Receives Notice Regarding NYSE Listing 5Health News:YMCA of the USA Announces New Year's Resolution to Better Support Health-Seeking Americans 2Health News:YMCA of the USA Announces New Year's Resolution to Better Support Health-Seeking Americans 3
(Date:3/3/2015)... AUSTIN, Texas , March 3, 2015  UnaliWear ... that provides advanced support for seniors that guards against ... The new wearable – the Kanega ... of its kind to use an easy speech interface ... update medical information without human input. ...
(Date:3/3/2015)... , March 3, 2015 Konica Minolta ... announced today a new, integrated portable X-ray ... solution is now available with a larger integrated console, ... mounted system offers a larger viewing area to simplify ... provides additional space for accessories and storage, along with ...
(Date:3/3/2015)... , March 3, 2015 Frost ... recognized world-class manufacturing companies and individual leaders ... Awards. Logo - http://photos.prnewswire.com/prnh/20150303/179222LOGO ... intensifying global competition and accelerating, technology-driven change, ... themselves by embracing breakthrough innovation and enabling ...
Breaking Medicine Technology:UnaliWear's Wearable For Seniors Extends Independence With Advanced Technology 2Konica Minolta Medical Imaging and Shimadzu Medical Systems USA Introduce MobileArt Evolution EFX AeroDR-i with 17" Touch Monitor to Simplify Operation 2Konica Minolta Medical Imaging and Shimadzu Medical Systems USA Introduce MobileArt Evolution EFX AeroDR-i with 17" Touch Monitor to Simplify Operation 32015 Manufacturing Leadership Award Winners Announced 22015 Manufacturing Leadership Award Winners Announced 32015 Manufacturing Leadership Award Winners Announced 42015 Manufacturing Leadership Award Winners Announced 52015 Manufacturing Leadership Award Winners Announced 6
... UCB, Inc. today announced an agreement with the U.S. ... investigation into the marketing and promotion of Keppra®, an anti-epileptic ... subject of this investigation occurred more than six years ago, ... with the United States since learning of the investigation in ...
... hoc analysis from the RECOVER study (Randomized Evaluation of ... that patients with Parkinson,s disease who used Neupro® (rotigotine ... mood/cognition, such as taking interest in surroundings and getting ... presented from a one year open label follow-up of ...
Cached Medicine Technology:UCB, Inc. Resolves Investigation of Past Keppra® Marketing and Promotional Activities 2Post Hoc Analysis from RECOVER Study Examined Effects of Neupro® (Rotigotine Transdermal System) on Surrogate Markers of Mood and Anhedonia in Parkinson's Disease 2Post Hoc Analysis from RECOVER Study Examined Effects of Neupro® (Rotigotine Transdermal System) on Surrogate Markers of Mood and Anhedonia in Parkinson's Disease 3Post Hoc Analysis from RECOVER Study Examined Effects of Neupro® (Rotigotine Transdermal System) on Surrogate Markers of Mood and Anhedonia in Parkinson's Disease 4Post Hoc Analysis from RECOVER Study Examined Effects of Neupro® (Rotigotine Transdermal System) on Surrogate Markers of Mood and Anhedonia in Parkinson's Disease 5Post Hoc Analysis from RECOVER Study Examined Effects of Neupro® (Rotigotine Transdermal System) on Surrogate Markers of Mood and Anhedonia in Parkinson's Disease 6
... a very versatile light source that ... of applications anytime a Zeiss stereomicroscope ... with optimum protection without heating the ... economical cold-light source that completes a ...
... from a complete line ... AC halogen light sources ... illumination. A solid-state dimmer ... and our exclusive Modulamp ...
Standard 20x long working distance objectives for greater magnifications of your microtools....
These objectives have more contrast than the DLL objectives for enhanced contrast with tissue culture specimens. These objectives are designed for use on inverted microscopes and therefore their mark...
Medicine Products: