Mental retardation pathophysiology: Difference between revisions
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{{CMG}}; {{AE}} {{Chelsea}} | {{CMG}}; {{AE}} {{Chelsea}} | ||
==Overview== | ==Overview== | ||
The exact pathogenesis of | The exact pathogenesis of intellectual disability is not fully understood but most researches focused on [[genes]] that specifically [[code]] for [[cognitive characteristics]] and are mostly [[X-linked]]. | ||
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==Pathophysiology== | ==Pathophysiology== | ||
Revision as of 12:53, 19 July 2021
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Mental retardation Microchapters |
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Diagnosis |
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Risk calculators and risk factors for Mental retardation pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]
Overview
The exact pathogenesis of intellectual disability is not fully understood but most researches focused on genes that specifically code for cognitive characteristics and are mostly X-linked.
Pathophysiology
Intellectual disorders with intact cortex have found that most of the known genes influencing cognitive abilities are X-linked. These genes code for different proteins and some are involved in neuronal connectivity and synapse formation and activity. Recent progress in unraveling the pathophysiology of ID involves defects in synaptogenesis and synaptic activities, including neuroplasticity. An important finding that illustrates the importance of synapses in the occurrence of ID involves the FMRP protein that is absent in Fragile X syndrome. The FMRP protein is normally detected in the nucleus, body, and dendrites. It is upregulated by glutamate-mediated stimulation—the specific knockout of Fmr1 results in abnormal morphology of dendrites in Purkinje cells in the cerebellum. Therefore, defects in synaptic structure and overall neuronal connectivity impairs proper information processing. [1] [2]
Associated Conditions
Conditions associated with [disease name] include:
- [Condition 1]
- [Condition 2]
- [Condition 3]
References
- ↑ Chelly, Jamel; Khelfaoui, Malik; Francis, Fiona; Chérif, Beldjord; Bienvenu, Thierry (2006). "Genetics and pathophysiology of mental retardation". European Journal of Human Genetics. 14 (6): 701–713. doi:10.1038/sj.ejhg.5201595. ISSN 1018-4813.
- ↑ Koekkoek, S.K.E.; Yamaguchi, K.; Milojkovic, B.A.; Dortland, B.R.; Ruigrok, T.J.H.; Maex, R.; De Graaf, W.; Smit, A.E.; VanderWerf, F.; Bakker, C.E.; Willemsen, R.; Ikeda, T.; Kakizawa, S.; Onodera, K.; Nelson, D.L.; Mientjes, E.; Joosten, M.; De Schutter, E.; Oostra, B.A.; Ito, M.; De Zeeuw, C.I. (2005). "Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome". Neuron. 47 (3): 339–352. doi:10.1016/j.neuron.2005.07.005. ISSN 0896-6273.