It is estimated that three to six out of every 1,000 children in the United States have autism – and the number of diagnosed cases is rising.
Autism is one of a group of series developmental problems called autism spectrum disorders (ASD) that appear in early childhood, usually before age 3. Through symptoms and severity vary, all autism disorders affect a child's ability to communicate and interact with others.
It's not clear whether this is due to better detection and reporting of autism, a real increase in the number of cases, or both.
That's why researchers at Case Western Reserve University, led by Gary Landreth, a professor of neurosciences and neurology at the School of Medicine, have pulled together a number of recent findings that link a common genetic pathway with a number of human syndromes and a newly-recognized genetic form of autism, publishing them in the January 29, 2009, issue of the prestigious journal Neuron.
Landreth, whose research team is made up of partners from the Cole Eye Institute at the Cleveland Clinic, the Louis Stokes Cleveland VA Medical Center and the University of Pennsylvania, says his lab in particular has been researching the class of enzymes called ERKs (extracellular signal regulated kinase), which are the central elements of a major intracellular signal transduction pathway. His research team has found that in animal models the ERKs – known as ERK 1 and ERK 2 – are required for normal brain, heart and facial development.
This common genetic pathway that acts to regulate the ERK signaling cascade is particularly important in brain development, learning, memory and cognition. It has been recently reported that mutation or deletion of elements within this signaling pathway leads to developmental syndromes in humans that are associated with impaired cognitive function and autism.
According to Landreth, these syndromes, called neuro-craniofacial-cardiac syndromes (NCFCs), encompass a group of syndromes also typified by cardiac, craniofacial and neurological defects. Current research has found that they arise from mutations in the intracellular signaling pathway that regulates ERKs.
"Very recently it was discovered that 1 percent of autistic children have either a loss or duplication in a region of Chromosome 16 that encompasses the gene for ERK 1," said Landreth, who also serves as director of the School of Medicine's Alzheimer's Research Laboratory. "What no one else realized is that the autistic children also have craniofacial and cardiac defects just like those children with NCFC syndromes."
Thus, Landreth says, mutations within the ERK signaling pathway appears to be a common cause for NCFC syndromes and those children with autism due to genetic changes in chromosome 16.
"Unexplained is why loss of ERK 1 is associated with autism and other ERK pathway mutations cause mental retardation and similar diseases," he said. "Our contribution to the autism story is that we recognized it was just like the NCFC syndromes and we are hypothesizing that they all arise from defects within a single genetic pathway."
Laura Massie | EurekAlert!
Further reports about: > ASD > Autism > ERK > ERK signaling cascade > NCFC > NCFC syndromes > Neuron > autism spectrum disorders > chromosome 16 > extracellular signal regulated kinase > genetic pathway > heart and facial development > intracellular signal transduction pathway > signaling pathway > single genetic pathway
A new molecular player involved in T cell activation
07.12.2018 | Tokyo Institute of Technology
News About a Plant Hormone
07.12.2018 | Julius-Maximilians-Universität Würzburg
What if a sensor sensing a thing could be part of the thing itself? Rice University engineers believe they have a two-dimensional solution to do just that.
Rice engineers led by materials scientists Pulickel Ajayan and Jun Lou have developed a method to make atom-flat sensors that seamlessly integrate with devices...
Scientists at the University of Stuttgart and the Karlsruhe Institute of Technology (KIT) succeed in important further development on the way to quantum Computers.
Quantum computers one day should be able to solve certain computing problems much faster than a classical computer. One of the most promising approaches is...
New Project SNAPSTER: Novel luminescent materials by encapsulating phosphorescent metal clusters with organic liquid crystals
Nowadays energy conversion in lighting and optoelectronic devices requires the use of rare earth oxides.
Scientists have discovered the first synthetic material that becomes thicker - at the molecular level - as it is stretched.
Researchers led by Dr Devesh Mistry from the University of Leeds discovered a new non-porous material that has unique and inherent "auxetic" stretching...
Scientists from the Theory Department of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science (CFEL) in Hamburg have shown through theoretical calculations and computer simulations that the force between electrons and lattice distortions in an atomically thin two-dimensional superconductor can be controlled with virtual photons. This could aid the development of new superconductors for energy-saving devices and many other technical applications.
The vacuum is not empty. It may sound like magic to laypeople but it has occupied physicists since the birth of quantum mechanics.
10.12.2018 | Event News
06.12.2018 | Event News
03.12.2018 | Event News
10.12.2018 | Materials Sciences
10.12.2018 | Event News
07.12.2018 | Life Sciences