PERSPECTIVES PTEN in Autism and Neurodevelopmental Disorders

Phosphatase and tensin homolog (PTEN) is a classical tumor suppressor that antagonizes phosphatidylinositol 3-phosphate kinase (PI3K)/AKT signaling. Although there is a strong association of PTEN germline mutations with cancer syndromes, they have also been described in a subset of patients with autism spectrum disorders with macrocephaly characterized by impairments in social interactions and communication, repetitive behavior and, occasionally, epilepsy. To investigate PTEN's role during neurodevelopment and its implication for autism, several conditional Pten knockout mouse models have been generated. These models are valuable tools to understand PTEN's spatiotemporal roles during neurodevelopment. In this review, we will highlight the anatomical and phenotypic results from animal studies and link them to cellular and molecular findings.
Source: Cold Spring Harbor perspectives in medicine - Category: Research Authors: Tags: The PTEN Family PERSPECTIVES Source Type: research

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Our world has never witnessed a time of greater promise for improving human health. Many of today’s health advances have stemmed from a long arc of discovery that begins with strong, steady support for basic science. In large part because of fundamental research funded by the National Institutes of Health (NIH), which traces its roots to 1887, Americans are living longer, healthier lives. Life expectancy for a baby born in the U.S. has risen from 47 years in 1900 to more than 78 years today. Among the advances that have helped to make this possible are a 70% decline in the U.S. death rate from cardiovascular disease ...
Source: TIME: Science - Category: Science Authors: Tags: Uncategorized Healthcare medicine Source Type: news
Remember Monty Python’s brilliant Life of Brian movie scene where the Palestinian insurgent commando, planning the abduction of Pilate’s wife in return for all the horrors they had to endure from the Roman Empire, asks the rhetorical question: what have the Romans ever done for us? With the hype and overmarketing, not to speak about the fears around A.I, we asked the same question. What has A.I. in medicine ever done for us? Well, we found at least 45 things. I have 45 responses to the pressing question on everyone’s mind who is interested in healthcare but tired of the hype or the doomsday scenarios a...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Artificial Intelligence in Medicine Future of Medicine administration AI cancer diagnostics digital health digital health technology Healthcare Innovation medical medical imaging Radiology treatment Source Type: blogs
Alec L. W. Dick1, Khen Khermesh2, Evan Paul1, Fabian Stamp1, Erez Y. Levanon3 and Alon Chen1,4*1Department of Stress Neurobiology and Neurogenetics, Max Planck Institute of Psychiatry, Munich, Germany2CytoReason, Tel-Aviv, Israel3The Mina and Everard Goodman Faculty of LifeSciences, Bar-Ilan University, Ramat-Gan, Israel4Department of Neurobiology, Weizmann Institute of Science, Rehovot, IsraelAdenosine-to-inosine (A-to-I) RNA editing is a co-/posttranscriptional modification of double-stranded RNA, catalyzed by the adenosine deaminase acting on RNA (ADAR) family of enzymes, which results in recognition of inosine as guano...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Anna Lisa Giuliani1, Merhej Berchan1, Juana M. Sanz2, Angelina Passaro2, Stefano Pizzicotti3, Valentina Vultaggio-Poma1, Alba Clara Sarti1 and Francesco Di Virgilio1* 1Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy 2Medical Science Department, University of Ferrara, Ferrara, Italy 3Laboratory Division of the S. Anna Hospital, University of Ferrara, Ferrara, Italy The P2X7 receptor (P2X7R) is a key pro-inflammatory plasma membrane receptor responsible for NLRP3 inflammasome activation and IL-1β release. Various inflammatory plasma membrane receptors (e.g.,...
Source: Frontiers in Immunology - Category: Allergy & Immunology 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
Discussion “[Cannabis] is a genus of flowering plant with three main varieties: sativa, indica and ruderalis.” It has been used for hundreds of years for hemp or fiber and also for psychoactive and medicinal effects. The active compounds are collectively called cannabinoids, of which delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD) are the most abundant. The floral buds or calyxes of the plant have the most cannabinoids, but other parts of the plant are also used such as leaves. Hash oil, hashish (or resin) and marijuana (dried leaves) are the common products from strongest to least strongest products. ...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
AbstractNa+/H+ Exchanger 9 (NHE9) is an endosomal membrane protein encoded by the Solute Carrier 9A, member 9 gene (SLC9A9).SLC9A9 has been implicated in attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), epilepsy, multiple sclerosis and cancers. To better understand the function of NHE9 and the effects of disease-associated variants on protein –protein interactions, we conducted a quantitative analysis of the NHE9 interactome using co-immunoprecipitation and isobaric labeling-based quantitative mass spectrometry. We identified 100 proteins that interact with NHE9. These proteins were ...
Source: ADHD Attention Deficit and Hyperactivity Disorders - Category: Psychiatry 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
Publication date: 26 July 2018Source: Cell, Volume 174, Issue 3Author(s): A. Jeremy Willsey, Montana T. Morris, Sheng Wang, Helen R. Willsey, Nawei Sun, Nia Teerikorpi, Tierney B. Baum, Gerard Cagney, Kevin J. Bender, Tejal A. Desai, Deepak Srivastava, Graeme W. Davis, Jennifer Doudna, Edward Chang, Vikaas Sohal, Daniel H. Lowenstein, Hao Li, David Agard, Michael J. Keiser, Brian ShoichetAlthough gene discovery in neuropsychiatric disorders, including autism spectrum disorder, intellectual disability, epilepsy, schizophrenia, and Tourette disorder, has accelerated, resulting in a large number of molecular clues, it has pro...
Source: Cell - Category: Cytology Source Type: research
säter H Abstract With increasing numbers of children being diagnosed with neurodevelopmental disorders (NDDs) attention has been drawn to these children's physical health. We aimed to identify the prevalence of defined physical problems (epilepsy, migraine, asthma, cancer, diabetes, psoriasis, lactose intolerance, celiac disease, diarrhea, constipation, daytime enuresis, encopresis) in a nationwide population of 9- and 12-year-old twins subdivided into those with and without indications of NDDs. Parents of 28,058 twins participated in a well-validated telephone interview regarding their children's mental heal...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
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