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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Abstract Patients with Cowden syndrome exhibit mucocutaneous lesions, hamartomatous polyposis of the gastrointestinal tract, and macrocephaly, often complicated by malignant tumors, such as breast, thyroid, and uterine cancers. Autism spectrum and epilepsy have been known as neuropsychiatric symptoms associated with Cowden syndrome; however, to the best of our knowledge, there is no report on cases complicated by schizophrenia. Here, we report a first case of Cowden syndrome complicated by schizophrenia. A 49-year-old Japanese woman started experiencing auditory hallucinations in her teens. She had left breast can...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
CONCLUSIONS: Reported associations between in utero exposure to antidepressants and physical, neurodevelopmental, and psychiatric outcomes, in large part, seem to be driven by the underlying maternal disorder. When limiting confounding by indication, prenatal exposure to antidepressants was significantly associated only with offspring BMI and affective disorders. PMID: 32412703 [PubMed - as supplied by publisher]
Source: Journal of Clinical Psychiatry - Category: Psychiatry Tags: J Clin Psychiatry Source Type: research
Authors: Chayasirisobhon S Abstract Cannabis plant has the scientific name called Cannabis sativa L. Cannabis plant has many species, but there are three main species including Cannabis sativa, Cannabis indica and Cannabis ruderalis. Over 70 compounds isolated from cannabis species are called cannabinoids (CBN). Cannabinoids produce over 100 naturally occurring chemicals. The most abundant chemicals are delta-9-tetrahydrocannabinol (THC) and Cannabidiol (CBD). THC is psychotropic chemical that makes people feel "high" while CBD is nonpsychotropic chemical. However, cannabinoid chemicals are not found only...
Source: Acta Neurologica Taiwanica - Category: Neurology Tags: Acta Neurol Taiwan Source Type: research
There’s no question that autism can be traced to a combination of genetic and environmental factors. One genetic contributor in particular has in recent years intrigued scientists studying autism: DNA mutations originating in fathers’ sperm. Studies have linked autism risk to de novo mutations, or changes in DNA that arise spontaneously in sperm as the germline cell develops, or in the embryo after fertilization. Researchers estimate that such mutations might be involved in anywhere from 10% to 30% of autism cases, and that the older a father is at the time of conception, the higher the chance his sperm will re...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Autism Brain Source Type: news
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
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