It is well known that TSC1, TSC2, PTEN and some other gene mutation will lead to mTOR hyperactivation and autism-like behavior. But there are reports that some other autism cases, without tuberous sclerosis and other known syndromes, can demonstrate signs of elevated mTOR signalling. What is the percentage of such cases in a total population of idiopathic autsim/ASD?
You know that distinct genetic mechanisms can result in ASD.There is a combination of the two or more mechanisms may occur in some ASD. Please have a look some articles in the attachment.
Уважаемый Владимир, спасибо за интересные статьи, но мой вопрос касался частоты случаев гиперактивации мТОР при несиндромальных (идиопатических) случаях аутизма. А не при туб.склерозе и т.п.
Насколько я понял, никто подобных исследований не проводил
Good evening, Lev. Let us think.
Many enzymes and regulatory molecules are interconnected at the molecular-cellular level. Look at the arguments that ultimately lead to the justification of the involvement of many enzymes, including m-TOR in the occurrence of idiopathic autism. Details are given in the link.
Of course this ‘linear’ pathway is embedded in a network of other pathways, including well-studied enzymes such as PI3K and mTOR. As such, alterations in the activity of this broader network can significantly affect the output of the ‘canonical,’ or standard, RAS pathway.
Evidence implicating RAS signaling in autism comes both from the functional studies of individual genes and from comparisons between autism and syndromes known to be caused by hyperactivation of the RAS pathway — the so-called RASopathies.
Much more needs to be done to confirm and extend these results, but they are consistent with the notion that RAS/ERK signaling has a role in idiopathic autism.
All the best, Vladimir
https://sfari.org/updates-and-events/sfari-blog/2012/ras-pathway-a-potentially-unifying-theory-of-autism
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