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
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In the article on the discovery of dinosaurs (They’re back, Review, 6 June) you state: “In Sussex, a local doctor uncovered fragmentary remains of what appeared to be two more species of colossal extinct land reptiles.” You grossly underplay the contribution of Lewes-born Gideon Mantell, geologist and palaeontologist, author and diarist, friend to princes and international scholars as well as local doctor. Mantell not only discovered (aided by his wife) the first remains of the iguanodon in 1824 but named it – as it resembled the tooth of an iguana. This was the first known land dinosaur, Mary Anning having identified the first sea-living dinosaur.Mantell went on to put together more pieces of the jigsaw with extra fossil discoveries. In contrast to Richard Owen, whose models form the basis for the Crystal Palace dinosaurs, Mantell stated correctly that iguanodon would have walked on their back legs, using their forearms to fight or gather food. He did, however, attribute the thumb spike to a nose horn though later corrected this assumption. The Natural History Museum has a display on Gideon and his wife Mary’s contribution as well as the large “Mantell-piece” of Iguanodon fossils that he had on show in his museum in Brighton. He sold it, along with many more priceless items, to the British Museum in 1838. Gideon Mantell’s reputation deserves better than your throwaway remark. Debby MatthewsLewes, East Sussex Continue reading...
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