Gene associated with autism also controls growth of the embryonic brain

A UCLA-led study reveals a new role for a gene that ’s associated with autism spectrum disorder, intellectual disability and language impairment.The gene, Foxp1, has previously been studied for its function in the neurons of the developing brain. But the new study reveals that it ’s also important in a group of brain stem cells — the precursors to mature neurons.“This discovery really broadens the scope of where we think Foxp1 is important,” said Bennett Novitch, a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA and the senior author of the paper. “And this gives us an expanded way of thinking about how its mutation affects patients.”Mutations in Foxp1 were first identified in patients with autism and language impairments more than a decade ago. During embryonic development, the protein plays a broad role in controlling the activity of many other genes related to blood, lung, heart, brain and spinal cord development. To study how Foxp1 mutations might cause autism, researchers have typically analyzed its role in the brain ’s neurons.“Almost all of the attention has been placed on the expression of Foxp1 in neurons that are already formed,” said Novitch, a UCLA professor of neurobiology who holds the Ethel Scheibel Chair in Neuroscience.In thenew study, published in Cell Reports, he and his colleagues monitored levels of Foxp1 in the brains of developing mous...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news

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In this episode, our hosts discuss whether or not mental illness is a real disorder or if it’s just something that medical and pharmaceutical companies made up to make a profit.  SUBSCRIBE &REVIEW “Instead of taking my psychiatric medications this morning, should I have just gone to yoga?” – Michelle Hammer Highlights from ‘Mental Illness Made Up’ Episode [2:00] Is mental illness real? [4:00] Yoga doesn’t cure all mental illnesses, just like it wouldn’t cure cancer. [16:00] Dealing with people who think mental illness is not real. [19:30] Eating disorders ar...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: A Bipolar, A Schizophrenic, and a Podcast Brain and Behavior Disorders General Source Type: blogs
Nagore Elu1, Nerea Osinalde2, Javier Beaskoetxea1, Juanma Ramirez1, Benoit Lectez1, Kerman Aloria3, Jose Antonio Rodriguez4, Jesus M. Arizmendi1 and Ugo Mayor1,5* 1Department of Biochemistry and Molecular Biology, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), Leioa, Spain 2Department of Biochemistry and Molecular Biology, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain 3Proteomics Core Facility-SGIKER, University of the Basque Country (UPV/EHU), Leioa, Spain 4Department of Genetics, Physical Anthropology and Animal Physiology, University of ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Conclusion The key problem with the ND field is the lack of understanding in the events preceding the development of protein-based markers – such as Tau – currently used to diagnose NDs. By this stage, the diseases become more difficult to treat. SncRNAs play an important regulatory role in the maintenance of the homeostatic brain. Therefore, changes in their concentration levels can be indicative of mechanistic changes that could precede protein-based markers. One single sncRNA biomarker is unlikely to differentiate between diseases. However, a combination of sncRNA biomarkers could be illustrative of the me...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Novel Contribution of Secreted Amyloid-β Precursor Protein to White Matter Brain Enlargement in Autism Spectrum Disorder Deborah K. Sokol1, Bryan Maloney2, Cara J. Westmark3 and Debomoy K. Lahiri2,4* 1Pediatrics Section, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, United States2Indiana Alzheimers Disease Center, Department of Psychiatry, Stark Neuroscience Research Institute, Indiana University School of Medicine, Indianapolis, IN, United States3Department of Neurology, University of Wisconsin, Madison, WI, United States4Department of Medical and Molecular Genetics, Indiana Un...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Authors: Pirozzi F, Nelson B, Mirzaa G Abstract Expansion of the human brain, and specifically the neocortex, is among the most remarkable evolutionary processes that correlates with cognitive, emotional, and social abilities. Cortical expansion is determined through a tightly orchestrated process of neural stem cell proliferation, migration, and ongoing organization, synaptogenesis, and apoptosis. Perturbations of each of these intricate steps can lead to abnormalities of brain size in humans, whether small (microcephaly) or large (megalencephaly). Abnormalities of brain growth can be clinically isolated or occur ...
Source: Dialogues in Clinical Neuroscience - Category: Neuroscience Tags: Dialogues Clin Neurosci Source Type: research
When Nichelle Obar learned she was pregnant with her second child last year, she never expected that her pregnancy, or her baby, would make history. But when the 40-year-old food-and-beverage coordinator from Hawaii and her fiancé Christopher Constantino went to their 18-week ultrasound, they learned something was wrong. The heart was larger than it should have been, and there was evidence that fluid was starting to build up around the organ as well. Both were signs that the fetus was working extra hard to pump blood to its fast-growing body and that its heart was starting to fail. Obar’s doctor knew what coul...
Source: TIME: Science - Category: Science Authors: Tags: Uncategorized medicine Source Type: news
Abstract The 21st century has witnessed the discovery of multiple rare and common gene variants associated with attention deficit hyperactivity disorder (ADHD), and these discoveries have already provided a starting point for the investigation of the biology of the disorder and novel treatments. The purpose of this selective review is to examine genetic findings from the past 5 years and consider their implications for the conceptualization of ADHD and future clinical practice. Recent discoveries reveal the strong genetic overlaps between ADHD and autism spectrum disorder (ASD) as well as intellectual disability. ...
Source: The American Journal of Psychiatry - Category: Psychiatry Authors: Tags: Am J Psychiatry Source Type: research
By SAURABH JHA Of my time arguing with doctors, 30 % is spent convincing British doctors that their American counterparts aren’t idiots, 30 % convincing American doctors that British doctors aren’t idiots, and 40 % convincing both that I’m not an idiot. A British doctor once earnestly asked whether American physicians carry credit card reading machines inside their white coats. Myths about the NHS can be equally comical. British doctors don’t prostate every morning in deference to the NHS, like the citizens of Oceania sang to Big Brother in Orwell’s dystopia. Nor, in their daily rounds, do the...
Source: The Health Care Blog - Category: Consumer Health News Authors: Tags: OP-ED Uncategorized AlfieEvans Source Type: blogs
The MEF2 polypeptide C (MEF2C), a transcription factor, encodes for a protein that plays a key role in myogenesis, craniofacial development, and neurogenesis. In 2010, microarray studies identified a microdeletion of 5q14.3 region (critical region including the MEF2C gene) to be contributing to a phenotype including intellectual disability, epilepsy and other cerebral malformations. Both truncating single nucleotide variations and deletions of this gene demonstrate haploinsuffciency. Clinically, MEF2C-related disorders are characterized by severe intellectual disability with absent speech, autism, limited walking abilities...
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
Publication date: Available online 15 December 2017 Source:Molecular and Cellular Neuroscience Author(s): Shigeki Iwase, Donna M. Martin Epigenetic regulation of gene expression is critical during development of the central nervous system. Pathogenic variants in genes encoding epigenetic factors have been found to cause a wide variety of neurodevelopmental disorders including Autism spectrum disorder, intellectual disability, and epilepsy. Cancers affecting neuronal and glial cells in the brain have also been shown to exhibit somatic mutations in epigenetic regulators, suggesting chromatin-based links between regulated an...
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
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