GW professor discovers new information in the understanding of autism and genetics
(Medical Xpress)—Research out of the George Washington University (GW), published in the journal Proceedings of the National Academy of Sciences (PNAS), reveals another piece of the puzzle in a genetic developmental disorder that causes behavioral diseases such as autism. Anthony-Samuel LaMantia, Ph.D., professor of pharmacology and physiology at the GW School of Medicine and Health Sciences (SMHS) and director of the GW Institute for Neuroscience, along with post-doctoral fellow Daniel Meechan, Ph.D. and Thomas Maynard, Ph.D., associate research professor of pharmacology and physiology at GW SMHS, authored the study titled "Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome."
For the past nine years, LaMantia and his colleagues have been investigating how behavioral disorders such as autism, attention deficit hyperactivity disorder (ADHD), and schizophrenia arise during early brain development. His work published in PNAS focuses specifically on the effects diminished 22q11.2 gene dosage has on cortical circuit development.
This research shows for the first time that genetic lesions known to be associated with autism and other behavioral diseases disrupt cellular and molecular mechanisms that ensure normal development of a key type of cortical neuron: the interneuron. LaMantia and his colleagues had found previously that one type of cortical neuron, the projection neuron, is not generated in appropriate numbers during development in a mouse model of 22q11 Deletion Syndrome. In the current study published in PNAS, LaMantia found that interneurons, while made in the right numbers at their birthplace outside of the cortex, are not able to move properly into the cortex where they are needed to control cortical circuit activity. The research shows that the main reason they don't move properly is due to diminished expression of activity of a key regulatory pathway for migration, the Cxcr4 cytokine receptor.
"This gives us two pieces of the puzzle for this genetic developmental disorder," said LaMantia. "These two pieces tell us that in very early development, those with 22q11.2 deletion syndrome do not make enough cells in one case, and do not put the other cells in the right place. This occurs not because of some degenerative change, but because the mechanisms that make these cells and put them in the right place during the first step of development have gone awry due to mutation."
The next step in LaMantia's research is to probe further into the molecular mechanisms that disrupt the proliferation of projection neurons and migration of interneurons. "If we understand that better and understand its consequences, we can go about fixing it," said LaMantia. "We want to understand why cortical circuits don't get built properly due to the genetic deletion of chromosome 22."
More information: LaMantia recently received the latest installment of a 10-year RO1 grant from the National Institutes of Health and the Eunice Kennedy Shriver National Institute of Child Health & Human Development for his project, titled "Regulation of 22q11 Genes in Embryonic and Adult Forebrain." This will allow him to further his research.
Journal reference: Proceedings of the National Academy of Sciences
Provided by George Washington University
- Scientists demonstrate link between genetic defect and brain changes in schizophrenia Oct 16, 2009 | not rated yet | 0
- Researchers pinpoint key stem cells for eating and sex Jul 21, 2010 | not rated yet | 0
- Rare genetic disorder points to molecules that may play role in schizophrenia Oct 09, 2012 | not rated yet | 0
- Cortex development depends on a protein Oct 02, 2012 | not rated yet | 0
- Autism linked with excess of neurons in prefrontal cortex Nov 08, 2011 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Question of reflection and transmission of TEM wave in normal incidenc
4 hours ago Suppose TEM wave in +z normal to a boundary on xy plane at z=0. We know *E* & *H* are tangential to the boundary. Let ##\vec E_i=\hat x E##, be the...
the rudyak-krasnolutski effective potencial
5 hours ago Hi ... anyone now how to calculate or the formula of the rudyak-krasnolutski EFFECTIVE potencial ? the effective potencial includes the angular...
Normal force for a lever model
6 hours ago My model is a lever on a table top. One arm is horizontal on the table, while the other arm is raised at an angle alpha. I'm assuming the weight of...
gravity is std. therefore can we rate a 'mass at height' by watts?
12 hours ago For example.... wind turbines are primarily listed by their wattage (1.5MW etc.) Presumably their output is varied according to rotational speed, so...
Calculating on-axis elements of a solenoid
May 22, 2013 I wanted to mention that this solenoid has many winds over many layers. The thickness of the windings is 2.4 inches coming off of the engineering...
latitude & longitude & air pressure
May 22, 2013 Hi there, I have a peculiar question. Imagine that you are in a earth position, obtained by google, that gives you the latitude and longitude....
- More from Physics Forums - Classical Physics
More news stories
Children with autism showed significant improvement after six months of simple sensory exercises at home using everyday items such as scents, spoons and sponges, according to UC Irvine neurobiologists.
Autism spectrum disorders May 21, 2013 | 3 / 5 (1) | 0 |
Research by Victoria University PhD education graduand Larah van der Meer highlights the importance of understanding the communication preferences of children with developmental disabilities such as autism.
Autism spectrum disorders May 14, 2013 | 3.3 / 5 (3) | 1
Children with autism see simple movement twice as quickly as other children their age, and this hypersensitivity to motion may provide clues to a fundamental cause of the developmental disorder, according ...
Autism spectrum disorders May 08, 2013 | not rated yet | 0 |
(AP)—Autism scientists are seeking more brain samples for research.
Autism spectrum disorders May 02, 2013 | 5 / 5 (1) | 0
(HealthDay)—Type 2 diabetes is more aggressive in children than adults, with signs of serious complications seen just a few years after diagnosis, new research finds.
29 minutes ago | not rated yet | 0
(Medical Xpress)—Regulating the distribution of power in neurons is done by a system that makes the national electric grid look simple by comparison. Each neuron has several thousand mitochondria confined ...
3 hours ago | 4.7 / 5 (3) | 0 |
Scientists at the National Institutes of Health report they have discovered in mouse studies that a small molecule released in the spinal cord triggers a process that is later experienced in the brain as ...
6 hours ago | 5 / 5 (2) | 0 |
Teams of highly respected Alzheimer's researchers failed to replicate what appeared to be breakthrough results for the treatment of this brain disease when they were published last year in the journal Science.
6 hours ago | 5 / 5 (1) | 1 |
Little is known about why asthma develops, how it constricts the airway or why response to treatments varies between patients. Now, a team of researchers at Weill Cornell Medical College, Columbia University Medical Center ...
7 hours ago | not rated yet | 0 |
A brief visual task can predict IQ, according to a new study. This surprisingly simple exercise measures the brain's unconscious ability to filter out visual movement. The study shows that individuals whose ...
8 hours ago | 4.9 / 5 (7) | 0 |