Essential Pathways and Circuits of Autism Pathogenesis

The Centers for Disease Control and Prevention estimate that 1 in 68 children in the United states is afflicted with autism spectrum disorders (ASD), yet at this time, there is no cure for the disease. Autism is characterized by delays in the development of many basic skills, most notably the abilit...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Gul Dolen, Mustafa Sahin
Μορφή: Online
Γλώσσα:Αγγλικά
Έκδοση: Frontiers Media SA 2021
Θέματα:
Διαθέσιμο Online:18292
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
_version_ 1869515975161806848
author Gul Dolen
Mustafa Sahin
author_browse Gul Dolen
Mustafa Sahin
author_facet Gul Dolen
Mustafa Sahin
author_sort Gul Dolen
collection Directory of Open Access Books
description The Centers for Disease Control and Prevention estimate that 1 in 68 children in the United states is afflicted with autism spectrum disorders (ASD), yet at this time, there is no cure for the disease. Autism is characterized by delays in the development of many basic skills, most notably the ability to socialize and adapt to novelty. The condition is typically identified in children around 3 years of age, however the high heritability of autism suggests that the disease process begins at conception. The identification of over 500 ASD risk genes, has enabled the molecular genetic dissection of the pathogenesis of the disease in model organisms such as mice. Despite the genetic heterogeneity of ASD etiology, converging evidence suggests that these disparate genetic lesions may result in the disruption of a limited number of key biochemical pathways or circuits. Classification of patients into groups by pathogenic rather than etiological categories, will likely aid future therapeutic development and clinical trials. In this set of papers, we explore the existing evidence supporting this view. Specifically, we focus on biochemical cascades such as mTOR and ERK signaling, the mRNA network bound by FMRP and UBE3A, dorsal and ventral striatal circuits, cerebellar circuits, hypothalamic projections, as well as prefrontal and anterior cingulate cortical circuits. Special attention will be given to studies that demonstrate the necessity and/or sufficiency of genetic disruptions (e.g. by molecular deletion and/or replacement) in these pathways and circuits for producing characteristic behavioral features of autism. Necessarily these papers will be heavily weighted towards basic mechanisms elucidated in animal models, but may also include investigations in patients.
format Online
id doab-20.500.12854ir-46856
institution Directory of Open Access Books
language eng
publishDate 2021
publishDateRange 2021
publishDateSort 2021
publisher Frontiers Media SA
publisherStr Frontiers Media SA
record_format ojs
spelling doab-20.500.12854ir-468562024-04-05T12:35:34Z Essential Pathways and Circuits of Autism Pathogenesis Gul Dolen Mustafa Sahin RC321-571 QH426-470 Q1-390 Cerebellum Striatum Oxytocin mTOR Hypothalamus Neurodevelopmental disorders Cell signaling thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences The Centers for Disease Control and Prevention estimate that 1 in 68 children in the United states is afflicted with autism spectrum disorders (ASD), yet at this time, there is no cure for the disease. Autism is characterized by delays in the development of many basic skills, most notably the ability to socialize and adapt to novelty. The condition is typically identified in children around 3 years of age, however the high heritability of autism suggests that the disease process begins at conception. The identification of over 500 ASD risk genes, has enabled the molecular genetic dissection of the pathogenesis of the disease in model organisms such as mice. Despite the genetic heterogeneity of ASD etiology, converging evidence suggests that these disparate genetic lesions may result in the disruption of a limited number of key biochemical pathways or circuits. Classification of patients into groups by pathogenic rather than etiological categories, will likely aid future therapeutic development and clinical trials. In this set of papers, we explore the existing evidence supporting this view. Specifically, we focus on biochemical cascades such as mTOR and ERK signaling, the mRNA network bound by FMRP and UBE3A, dorsal and ventral striatal circuits, cerebellar circuits, hypothalamic projections, as well as prefrontal and anterior cingulate cortical circuits. Special attention will be given to studies that demonstrate the necessity and/or sufficiency of genetic disruptions (e.g. by molecular deletion and/or replacement) in these pathways and circuits for producing characteristic behavioral features of autism. Necessarily these papers will be heavily weighted towards basic mechanisms elucidated in animal models, but may also include investigations in patients. 2021-02-11T12:57:32Z 2021-02-11T12:57:32Z 2016-01-19 14:05:46 2016 book 18292 16648714 9782889199051 https://directory.doabooks.org/handle/20.500.12854/46856 eng Frontiers Research Topics image/jpeg Attribution 4.0 International http://www.frontiersin.org/books/Essential_Pathways_and_Circuits_of_Autism_Pathogenesis/963#nogo http://journal.frontiersin.org/researchtopic/3508/essential-pathways-and-circuits-of-autism-pathogenesis Frontiers Media SA 10.3389/978-2-88919-905-1 10.3389/978-2-88919-905-1 bf5ce210-e72e-4860-ba9b-c305640ff3ae 9782889199051 181 open access
spellingShingle RC321-571
QH426-470
Q1-390
Cerebellum
Striatum
Oxytocin
mTOR
Hypothalamus
Neurodevelopmental disorders
Cell signaling
thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences
Gul Dolen
Mustafa Sahin
Essential Pathways and Circuits of Autism Pathogenesis
title Essential Pathways and Circuits of Autism Pathogenesis
title_full Essential Pathways and Circuits of Autism Pathogenesis
title_fullStr Essential Pathways and Circuits of Autism Pathogenesis
title_full_unstemmed Essential Pathways and Circuits of Autism Pathogenesis
title_short Essential Pathways and Circuits of Autism Pathogenesis
title_sort essential pathways and circuits of autism pathogenesis
topic RC321-571
QH426-470
Q1-390
Cerebellum
Striatum
Oxytocin
mTOR
Hypothalamus
Neurodevelopmental disorders
Cell signaling
thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences
topic_facet RC321-571
QH426-470
Q1-390
Cerebellum
Striatum
Oxytocin
mTOR
Hypothalamus
Neurodevelopmental disorders
Cell signaling
thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences
url 18292
work_keys_str_mv AT guldolen essentialpathwaysandcircuitsofautismpathogenesis
AT mustafasahin essentialpathwaysandcircuitsofautismpathogenesis