The Role of mTOR Dysregulation in the Cerebellum in the Emergence of Autism-Like Behaviors

Kolsal, Elif (2025) The Role of mTOR Dysregulation in the Cerebellum in the Emergence of Autism-Like Behaviors. Bachelor's Thesis, Biology.

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Abstract

ASD is a neurodevelopmental disorder characterized by social impairment, and repetitive and restrictive behaviors. The DSM-V recognises impaired motor functions as a common symptom for ASD, pointing to the involvement of the cerebellum in the disorder. This is further supported by post-mortem examinations of ASD patients having reduced cerebellar volumes. mTOR signalling pathway is indicated in the development of ASD; however, the role of mTOR specific to the cerebellum is unclear. This paper aims to answer what the cerebellum-specific role of mTOR dysregulation is in the emergence of ASD-like behaviors. mTOR hyperactivation in the cerebellum is expected to lead to a decreased number of cerebellar neurons with shorter lifespans and abnormal physiology; and hence lead to motor problems, poor social performance, and repetitive behaviors; characterizing ASD presentation. This thesis looks to answer this question by reviewing tcs1, tsc2, and Bmal1 deficient mice as models for autism and examining the characteristics of their cerebellum. Furthermore, the use and molecular mechanisms of various drugs for the amelioration of pathological behaviors of ASD will also be discussed. Examinations of cerebellum of ASD animal models have revealed lowered PC excitability, increased spine density on PCs and abnormal PC densities. mTOR hyperactivation specifically in the cerebellum leads to abnormal PC characteristics, which is sufficient for the emergence of pathological ASD-like behaviors.

Item Type:	Thesis (Bachelor's Thesis)
Supervisor name:	Drion, C.M. and Kas, M.J.H.
Degree programme:	Biology
Thesis type:	Bachelor's Thesis
Language:	English
Date Deposited:	22 May 2025 08:33
Last Modified:	22 May 2025 08:33
URI:	https://fse.studenttheses.ub.rug.nl/id/eprint/35189

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