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.
Douglas Mental Health University Institute: http://douglas.qc.ca/accueil.asp?l=e
This press release was posted to serve as a topic for discussion. Please comment below. We try our best to only post press releases that are associated with peer reviewed scientific literature. Critical discussions of the research are appreciated. If you need help finding a link to the original article, please contact us on twitter or via e-mail.
Algorithms developed by Google designed to encode thoughts, could lead to computers with ‘common sense’ within a decade, says leading AI scientist
New fossil evidence suggests dogs emerged as a separate species from wolves far earlier than scientists previously believed
Researchers discover the 425-million-year-old remains of a new species of parasite - still clamped to the host animal it invaded.
It should be raptor egg blue instead of robin egg blue. Some modern birds lay colourful eggs, but now we know it's a trick their dinosaur ancestors used too
WASHINGTON (Reuters) - Scientists on Thursday unveiled the most comprehensive analysis ever undertaken of the world's ocean plankton, the tiny organisms that serve as food for marine creatures such as the blue whale, but also provide half the oxygen we breathe.
Scientists on Thursday unveiled the most comprehensive analysis ever undertaken of the world's ocean plankton, the tiny organisms that serve as food for marine creatures such as the blue whale, but also provide half the oxygen we breathe.
Researchers say they're excited about a new brain implant that allowed a paralyzed patient to control a robotic arm with his mind. Erik Sorto is the first in the world to have this new neural prosthetic device. Elaine Quijano reports.
Genetically, at least, not that much has changed in the billion years since you two last shared a relative. Roughly half the 500 genes yeast need for life are interchangeable with the human versions.
What controls aging? Biochemist Cynthia Kenyon has found a genetic mutation that can more than double the lifespan of a tiny worm, which points to how we might one day significantly extend human life.
Java sparrows amp up their tunes with acoustic beak taps synchronized with chirps