Mental retardation pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]


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.


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]



The normal physiology of [name of process] can be understood as follows:


  • The exact pathogenesis of [disease name] is not completely understood.


  • It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
  • [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
  • Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
  • [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
  • The progression to [disease name] usually involves the [molecular pathway].
  • The pathophysiology of [disease/malignancy] depends on the histological subtype.


[Disease name] is transmitted in [mode of genetic transmission] pattern.


Genes involved in the pathogenesis of [disease name] include:

  • [Gene1]
  • [Gene2]
  • [Gene3]


The development of [disease name] is the result of multiple genetic mutations such as:

  • [Mutation 1]
  • [Mutation 2]
  • [Mutation 3]

Associated Conditions

Conditions associated with [disease name] include:

  • [Condition 1]
  • [Condition 2]
  • [Condition 3]

Gross Pathology

On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].


  1. 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.
  2. 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.