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[edit]Clinical Importance and Applications
[edit]Recent studies link mutations in genes encoding neurexin and neuroligin to a spectrum of cognitive disorders, such as [[autism spectrum disorders (ASDs), schizophrenia, and mental retardation.[1] Cognitive diseases remain difficult to understand, as they are characterized by subtle changes in a subgroup of synapses in a circuit rather than impairment of all systems in all circuits. Depending on the circuit, these subtle synapse changes may produce different neurological symptoms, leading to classification of different diseases. Counterarguments to the relationship between cognitive disorders and these mutations exist, prompting further investigation into the underlying mechanisms producing these cognitive disorders.
Autism
[edit]Autism is a neurodevelopmental disorder characterized by qualitative deficits in social behavior and communication, often including restricted, repetitive patterns of behavior.[2] It includes a subset of three disorders: Childhood Disintegrative Disorder, Asperger syndrome, and Pervasive Developmental Disorder – Not Otherwise Specified. A small percentage of ASD patients present with single mutations in genes encoding neuroligin-neurexin cell adhesion molecules. Neurexin is crucial to synaptic function and connectivity, as highlighted in wide spectrum of neurodevelopmental phenotypes in individuals with neurexin deletions. This provides strong evidence that neurexin deletions result in increased risk of ASDs, and indicate synapse dysfunction as the possible site of autism origin. [3]
Schizophrenia
[edit]Schizophrenia is a debilitating neuropsychiatric illness with multiple genes and environmental exposures involved in its genesis. [4] Further research indicates that deletion of the NRXN1 gene increases the risk of schizophrenia.[5] Genomic duplications and deletions on a micro-level – known as copy number variants (CNVs) – often underlie neurodevelopmental syndromes. Genomic-wide scans suggest that individuals with schizophrenia have rare structural variants that deleted or duplicated one or more genes.[6] As these studies only indicate an increased risk, further research is necessary to elucidate the underlying mechanisms of the genesis of cognitive diseases.[7][8]
Mental Retardation and Tourette’s Syndrome
[edit]Similar to schizophrenia, studies have shown that mental retardation and Tourette’s syndrome are also associated with NRXN1 deletions.[9][10]
References
[edit]- ^ Thomas C. Südhof, "Neuroligins and Neurexins Link Synaptic Function to Cognitive Disease", Nature, 2008 October 16
- ^ Catherine Lord, "Autism Spectrum Disorders", "ScienceDirect", 2000 November
- ^ Pizzarelli R, Cherubini E (2011). "Alterations of GABAergic signaling in autism spectrum disorders". Neural Plast. 2011: 297153. doi:10.1155/2011/297153. PMC 3134996. PMID 21766041.
- ^ Tom Walsh, Jon M. McClellan, Shane E. McCarthy, Anjené M. Addington, Sarah B. Pierce, Greg M. Cooper, Alex S. Nord, Mary Kusenda, Dheeraj Malhotra, Abhishek Bhandari, Sunday M. Stray, Caitlin F. Rippey, Patricia Roccanova, Vlad Makarov, B. Lakshmi, Robert L. Findling, Linmarie Sikich, Thomas Stromberg, Barry Merriman, Nitin Gogtay, Philip Butler, Kristen Eckstrand, Laila Noory, Peter Gochman, Robert Long, Zugen Chen, Sean Davis, Carl Baker, Evan E. Eichler, Paul S. Meltzer, Stanley F. Nelson, Andrew B. Singleton, Ming K. Lee, Judith L. Rapoport, Mary-Claire King, Jonathan Sebat, "Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia", "Science", 27 March 2008
- ^ Kirov G, Rujescu D, Ingason A, Collier DA, O'Donovan MC, Owen MJ (September 2009). "Neurexin 1 (NRXN1) deletions in schizophrenia". Schizophr Bull. 35 (5): 851–4. doi:10.1093/schbul/sbp079. PMC 2728827. PMID 19675094.
{{cite journal}}: CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link) - ^ Lavrent'eva EB, Dogel' NV, Sokha LG, Rybakova NM (1991). "[The use of point massage in a sanatorium on children with kidney diseases]". Vopr Kurortol Fizioter Lech Fiz Kult (in Russian) (5): 37–41. PMID 1836910.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Kirov G, Gumus D, Chen W; et al. (February 2008). "Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia". Hum. Mol. Genet. 17 (3): 458–65. doi:10.1093/hmg/ddm323. PMID 17989066.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link) - ^ Kirov G, Gumus D, Chen W; et al. (February 2008). "Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia". Hum. Mol. Genet. 17 (3): 458–65. doi:10.1093/hmg/ddm323. PMID 17989066.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: date and year (link) CS1 maint: multiple names: authors list (link) - ^ Thomas C. Südhof, "Neuroligins and Neurexins Link Synaptic Function to Cognitive Disease", Nature, 2008 October 16
- ^ Lavrent'eva EB, Dogel' NV, Sokha LG, Rybakova NM (1991). "[The use of point massage in a sanatorium on children with kidney diseases]". Vopr Kurortol Fizioter Lech Fiz Kult (in Russian) (5): 37–41. PMID 1836910.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
Oscar PIstorius: the Pride and Shame of South Africa
[edit]Should the world put its faith in fallible athletes?