Posted in CNTNAP2, Cerebellum, Frontal cortex, Frontal pole, Fusiform gyrus, Rostral fronto-occipital fasciculus, Thalamus, White matter, tagged 23andMe, Add new tag, autism, Autism spectrum, Brain, Development, Frontal lobe, Functional magnetic resonance imaging, Genetic testing, Genetics, Grey matter, Health, Mental disorder, Mental health, Neural development, Neurodevelopmental, synaptogenesis, White matter on March 5, 2010 | Leave a Comment »
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The A-to-T SNP rs7794745 in the CNTNAP2 gene was found to be associated with increased risk of autism (see Arking et al., 2008). Specifically, the TT genotype, found in about 15% of individuals, increases these folks’ risk by about 1.2-1.7-fold. Sure enough, when I checked my 23andMe profile, I found that I’m one [...]
Posted in FMR1, Somatosensory cortex, Thalamus, tagged autism, Autism spectrum, Brain, Cognition, critical period, Development, Mental disorder, Mutation, pruning, Rett Syndrome, sensory overload, synaptic plasticity, synaptic pruning on February 13, 2010 | Leave a Comment »
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If you have a minute, check out this “Autism Sensory Overload Simulation” video to get a feel for the perceptual difficulties experienced by people with autism spectrum disorders. A recent article, “Critical Period Plasticity Is Disrupted in the Barrel Cortex of Fmr1 Knockout Mice” [doi: 10.1016/j.neuron.2010.01.024] provides some clues to the [...]
Posted in BDNF, MECP2, tagged Anxiety, Art, autism, Cognition, cognitive development, Development, Epigenetics, Gene, Gene expression, MECP2, meme-art, Rett Syndrome, schizophrenia, Stress, synaptogenesis, Transcription on December 16, 2009 | 1 Comment »
Some quick sketches that might help put the fast-growing epigenetics and cognitive development literature into context. Visit the University of Utah’s Epigenetics training site for more background!
The genome is just the A,G,T,C bases that encode proteins and other mRNA molecules. The “epi”genome are various modification to the DNA – such as methylation (at C residues) [...]
Posted in Chromosome structural variants, Intronic or repetitive sequences, tagged autism, Autism spectrum, Cognition, Genetic testing, Mental disorder, Mental health, Neural development, Neurodevelopmental, schizophrenia on December 7, 2009 | 1 Comment »
The recent paper, “Comparative genomics of autism and schizophrenia” by Bernard Crespi and colleagues provides a very exciting take on how genetic data can be mined to understand cognitive development and mental illness. Looking at genetic association data for autism and schizophrenia, the authors point out that 4 loci are associated with both schizophrenia and [...]
Posted in Chromosome structural variants, tagged autism, Bipolar disorder, Brain, Development, DNA, Gene expression, Mental disorder, Mental health, Mood, schizophrenia on October 27, 2009 | 1 Comment »
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File this story under “the more you know, the more you don’t know” or simply under “WTF!“ The new paper, “Microduplications of 16p11.2 are associated with schizophrenia” [doi:10.1038/ng.474] reveals that a short stretch of DNA on chromosome 16p11.2 is – very rarely – duplicated and – more rarely – deleted. In an analysis [...]
Posted in Uncategorized, tagged autism, Autism spectrum on October 19, 2009 | Leave a Comment »
While most presentations at SfN cover brief snippets of research, yesterday it was a delight to hear the story of neurexins and neuroligins – the whole, decades worth of research, story – from Professor Thomas Sudhof, whose lab has been responsible for the purification and biochemical characterization of these proteins. Without re-telling the tale here, [...]
Posted in MECP2, tagged autism, Development, Epigenetics, Gene, Gene expression, Long-Term Potentiation, MECP2, Mental disorder, Mental health, Mental retardation, Neural network, Neuron, Rett Syndrome on September 30, 2009 | 1 Comment »
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In previous posts, we have explored some of the basic molecular (de-repression of chromatin structure) and cellular (excess synaptogenesis) consequences of mutations in the MeCP2 gene – a.k.a the gene whose loss of function gives rise to Rett syndrome. One of the more difficult aspects of understanding how a mutation in a lowly [...]
Posted in MECP2, White matter, tagged Ari Gold, autism, Development, Glial cell, MECP2, Mental disorder, Neural development, Neuron, Rett Syndrome, White matter on September 28, 2009 | Leave a Comment »
Celebrities and politicians are known for their love of the spotlight. “Me, me, me!” are the words to get ahead by in our modern media circus. As well, it can even be – in the unglamorous world of science – where, in characteristically geeky form, the conventional wisdom is to shout, “my hypothesis, my [...]
Posted in HDACs, MECP2, tagged autism, Autism spectrum, Development, DNA, DNA methylation, Epigenetics, Gene, Gene expression, HDAC, Mental disorder, Mental health, Mutation, Rett Syndrome on September 24, 2009 | Leave a Comment »
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The cognitive and emotional impairments in the autism spectrum disorders can be difficult for parents and siblings to understand and cope with. Here are some graphics and videos that might assist in understanding how genetic mutations and epigenetic modifications can lead to various forms of social withdrawl commonly observed in the autism spectrum [...]
Posted in HDACs, tagged autism, Biology, Development, DNA, Epigenetics, Gene, Gene expression, Genetics, Mental disorder, Mouse, Natural selection, Neural network, Rett Syndrome on September 21, 2009 | 2 Comments »
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The homunculus (argument) is a pesky problem in cognitive science – a little guy who might suddenly appear when you propose a mechanism for decision making, spontaneous action or forethought etc. – and would take credit for the origination of the neural impulse. While there are many mechanistic models of decision [...]
Posted in 5HTT, SNORD115, SNRPN, UBE3A, tagged Angelman Syndrome, autism, Biology, Development, Epigenetics, Eukaryotic, Gene, Genetics, Genomic imprinting, Prader-Willi syndrome, RNA on July 21, 2009 | 1 Comment »
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One way to organize the great and growing body of research into autism is via a sort-of ‘top-down’ vs. ‘bottom-up’ perspective. From the ‘top-down’ one can read observational research that carefully catalogs the many & varied social and cognitive attributes that are associated with autism. Often times, these behavioral studies are coupled with [...]
Posted in AVPR1a, Amygdala, tagged autism, Development, Genetic testing, Mental disorder on June 20, 2009 | 2 Comments »
Comparisons of “healthy” vs. “disordered” genomes in psychiatry have not yet revealed sequence differences that can reliably predict the onset of mental disability. Rather, such disability seems to arise from as-yet-undetermined complex, probablistic interactions of genetic risk and environmental factors over the course of development. With this as the case, the demarcations between “healthy” and [...]
Posted in Chromosome structural variants, tagged autism, Genetic testing, Personalized medicine, schizophrenia on August 27, 2008 | Leave a Comment »
Image via Wikipedia Doctor David Ledbetter gives an eloquent editorial overview in his piece, “Cytogenetic Technology: Genotype and Phenotype” [doi: 10.1056/NEJMe0806570] on the renaissance underway in the field of medical cytogenetics. The use of high density arrays for genome-wide copy number variation has identified a slew of new sites showing recurrent microdeletion that are reliably [...]
Posted in CNTNAP2, tagged autism, evolution on March 7, 2008 | 1 Comment »
Image via Wikipedia I was just browsing the recent paper “Natural selection has driven population differentiation in modern humans” by Barreiro and colleagues (doi:10.1038/ng.78) and noticed in their supplementary table that the autism risk factor CNTNAP2 (as blogged about earlier here) contains at least one non-synonymous or 5′-UTR SNP with a high Fst value. [...]
Posted in NLGN3/4, NRXB1, tagged autism, Mental disorder on January 21, 2008 | Leave a Comment »
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Synaptic formation involves a complex series of steps including cellular movement, membrane specialization, molecular recognition, recruitment of pre- & postsynaptic docking proteins and accompanying receptors, reuptake & recycling factors. When individual components of this process are structurally unsound or misformed, it is easy to imagine that the process of synapse formation [...]
Posted in CNTNAP2, LDB1, Superior temporal cortex, tagged autism, Development, language on December 7, 2007 | 1 Comment »
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The acquisition of language in humans remains a complex and fascinating mystery from both a neuro- and evolutionary-biological perspective. Attempts to identify genetic regulators of neural processes that are involved in language acquisition have the potential to shed light, not only on the natural history of homo sapiens, but also, [...]
Posted in AVPR1a, Hypothalamus, Lateral septum, tagged autism, Emotion on October 29, 2007 | Leave a Comment »
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“Love is the answer, but while you’re waiting for the answer, sex raises some pretty interesting questions” so says Woody Allen. Indeed, whether you’re in love or lust, the tiny neuropeptide arginine vasopressin (AVP) is your pal. Recently, Thompson et al., found that AVP increases the perception of friendliness in females [...]
Posted in Uncategorized, tagged autism, Mental disorder, Mental health, Mutation on April 16, 2007 | Leave a Comment »
Mike Wigler’s team at Cold Spring Harbor Labs finds that spontaneous mutations are more prevalent in patients with autism than in patients with a first-degree relative also with autism. Perhaps the comparative genomic hybridization methods applied in this case will prove useful in sifting our spontaneous vs. ancestral forms of genetic variation in other [...]
