Classical and systems genetics have identified wide networks of genes associated with cognitive and neurodevelopmental diseases. In parallel to deciphering the role of each of these genes in neuronal or synaptic function, evaluating the response of neuronal and molecular networks to gene loss of function could reveal some pathophysiological mechanisms potentially accessible to nongenetic therapies. Loss of function of the Rho-GAP oligophrenin-1 is associated with cognitive impairments in both human and mouse. Upregulation of both PKA and ROCK has been reported in mice, but it remains unclear whether kinase hyperactivity contributes to the behavioral phenotypes. In this study, we thoroughly characterized a prominent perseveration phenotype displayed by -deficient mice using a Y-maze spatial working memory (SWM) test. We report that deficiency in the mouse generated severe cognitive impairments, characterized by both a high occurrence of perseverative behaviors and a lack of deliberation during the SWM test. and pharmacological experiments suggest that PKA dysregulation in the mPFC underlies cognitive dysfunction in -deficient mice, as assessed using a delayed spatial alternation task results. Functionally, mPFC neuronal networks appeared to be affected in a PKA-dependent manner, whereas hippocampal-PFC projections involved in SWM were not affected in mice. Thus, we propose that discrete gene mutations in intellectual disability might generate "secondary" pathophysiological mechanisms, which are prone to become pharmacological targets for curative strategies in adult patients. Here we report that deficiency generates severe impairments in performance at spatial working memory tests, characterized by a high occurrence of perseverative behaviors and a lack of decision making. This cognitive deficit is consecutive to PKA deregulation in the mPFC that prevents KO mice to exploit a correctly acquired rule. Functionally, mPFC neuronal networks appear to be affected in a PKA-dependent manner, whereas behaviorally important hippocampal projections were preserved by the mutation. Thus, we propose that discrete gene mutations in intellectual disability can generate "secondary" pathophysiological mechanisms prone to become pharmacological targets for curative strategies in adults.
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http://dx.doi.org/10.1523/JNEUROSCI.0351-17.2017 | DOI Listing |
Ann Neurosci
January 2025
National Resource Centre for Value Education in Engineering, Indian Institute of Technology, Delhi, India.
Background: Neural activity and subjective experiences indicate that breath-awareness practices, which focus on mindful observation of breath, promote tranquil calm and thoughtless awareness.
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Heliyon
January 2025
Department of Software Engineering, College of Computer Engineering and Sciences, Prince Sattam bin Abdulaziz University, Saudi Arabia.
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January 2025
Research and Development, British American Tobacco (Investments) Ltd., Southampton, United Kingdom.
Introduction: Functional beverages are increasingly popular but it is important to validate their purported effects through research. The aim of the current study was to investigate the effects of a new functional energy shot on cognitive performance and mood states in healthy adults, with a focus on measuring mental energy enhancement and attenuation of negative effects associated with extended performance of mentally demanding tasks.
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J Clin Res Pediatr Endocrinol
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Narasaraopeta Engineering College, Computer Science and Engineering, India.
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Mem Cognit
January 2025
Department of Psychology, Huron University College at Western, 1349 Western Road, London, ON, N6G 1H3, Canada.
Tonal short-term memory has been positively associated with both incidentally acquired absolute pitch memory (e.g., for popular songs) and explicitly learned absolute pitch (AP) categories; however, the relationship between these constructs has not been directly tested within the same individuals.
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