Navigation Links
Researchers find new genetic pathway behind neurodevelopmental disorders
Date:12/6/2012

Researchers at the Douglas Mental Health University Institute, have discovered a new genetic process that could one day provide a novel target for the treatment of neurodevelopmental disorders, such as intellectual disability and autism.

The research study, which appears in the December issue of the American Journal of Human Genetics, was led by Carl Ernst, a Douglas Institute researcher, an assistant professor in McGill's Department of Psychiatry and a Canada Research Chair in Psychiatric Genetics. Ernst and his colleagues found that genetic mutations that negatively affect brain development can occur in a gene family of previously unknown function in the human genome.

According to the World Health Organization, neurodevelopmental disorders affect one in six children in industrialized countries. Impairing the growth and development of the brain or central nervous system, neurodevelopmental disorders encompass a broad range of conditions, including developmental delay, autism spectrum disorders and cerebral palsy. People with neurodevelopmental disorders can experience difficulties with language, speech, learning, behaviour, motor skills and memory.

Mutations in genes are thought to underlie many neurodevelopmental disorders, but all genes important for brain development found to date are in a single pathway. Genes are coded in DNA that gives way to RNA, which gives way to protein. Proteins form the functional unit of the body and are the major players in all biological activity. Prior to the current study, all genetic mutations important for neurodevelopmental disorders, occured in genes that make protein.

The work of Ernst and his research team identified an important shortcut in the process of making functional molecules for brain development. By sequencing the genomes of 200 people with neurodevelopmental disorders and chromosomal abnormalities, and comparing the results to more than 15,000 control samples, the researchers made a surprising discovery: some individuals had mutations in a gene that did not make protein.

"Our discovery tells us that mutations in genes that code only for RNA and do not make protein can have a functional impact and lead to neurodevelopmental abnormalities," Ernst says. "In previous studies of brain development, RNA was just considered a middle player one that only served as a template for the production of proteins."

By opening up a new area of study involving RNA, Ernst aims to advance understanding of the underlying causes of neurodevelopmental disorders. "We hope to shine a new light on how the brain develops," he says.


'/>"/>

Contact: Anne Quirion
anne.quirion@douglas.mcgill.ca
514-443-9990
Douglas Mental Health University Institute
Source:Eurekalert

Related biology news :

1. Researchers investigate impacts of climate change on rare tropical plants
2. Researchers identify proteins that indicate which kidney tumors are most likely to spread
3. Microchoreography: Researchers use synthetic molecule to guide cellular dance
4. Einstein researchers receive 2 Grand Challenges Explorations grants to combat HIV and TB
5. University of Tennessee researchers find fungus has cancer-fighting power
6. UC Davis researchers aid effort to sequence the complex wheat genome
7. Joslin researchers increase understanding of genetic risk factor for type 1 diabetes
8. Fracking in Michigan: U-M researchers study potential impact on health, environment, economy
9. NREL researchers use imaging technologies to solve puzzle of plant architecture
10. NIH-funded researchers show possible trigger for MS nerve damage
11. Temple-Penn researchers identify calcium accelerator to keep cell power supply going
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/2/2016)... 2, 2016   The Weather Company , an IBM ... an industry-first capability in which consumers will be able to ... ask questions via voice or text and receive relevant information ... Marketers have long sought an advertising solution that ... be personal, relevant and valuable; and can scale across millions ...
(Date:5/24/2016)... care by providing unparalleled technology to leaders of the medical imaging industry.  As such, ... to the range of products distributed by Ampronix. Photo - http://photos.prnewswire.com/prnh/20160524/371420 ... ... ... With ...
(Date:5/12/2016)... DALLAS , May 12, 2016 ... has just published the overview results from the Q1 ... of the recent wave was consumers, receptivity to a ... wearables data with a health insurance company. ... choose to share," says Michael LaColla , CEO ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... , June 23, 2016 Apellis Pharmaceuticals, ... 1 clinical trials of its complement C3 inhibitor, ... and multiple ascending dose studies designed to assess ... of subcutaneous injection in healthy adult volunteers. ... either as a single dose (ranging from 45 ...
(Date:6/23/2016)... , June 23, 2016 On ... session at 4,833.32, down 0.22%; the Dow Jones Industrial Average ... 500 closed at 2,085.45, down 0.17%. Stock-Callers.com has initiated coverage ... INFI ), Nektar Therapeutics (NASDAQ: NKTR ), Aralez ... Inc. (NASDAQ: BIND ). Learn more about these ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... of intelligent tools designed, tuned and optimized exclusively for Okuma CNC machining centers ... The result of a collaboration among several companies with expertise in toolholding, cutting ...
(Date:6/22/2016)... , June 22, 2016 Cell Applications, ... allow them to produce up to one billion ... lot within one week. These high-quality, consistent stem ... preparing cells and spend more time doing meaningful, ... a proprietary, high-volume manufacturing process that produces affordable, ...
Breaking Biology Technology: