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Sleeping in the context of Fragile X syndrome, a complex relationship.

Jansman, Jippe (2024) Sleeping in the context of Fragile X syndrome, a complex relationship. Bachelor's Thesis, Biology.


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Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation in the FMR1 gene, characterized by excessive CGG triplet repeats. Individuals with FXS experience various physical and cognitive abnormalities, including cognitive impairments and sleep deprivation (SD). This thesis explores the molecular pathways leading to cognitive impairment in FXS and SD, and their potential additive effects. FXS cognitive deficits stem from the absence of FMRP, disrupting metabotropic glutamate receptors (mGluRs) and affecting long-term depression (LTD) and potentiation (LTP). AMPA receptor dysfunction further impairs cognition. SD also impacts cognition by compromising LTP and LTD in the hippocampus, altering glutamatergic signaling, reducing NMDA-mediated LTP, increasing GABA receptor expression, and affecting FMRP levels. The overlap in cognitive impairments due to SD and FXS suggests FMRP deficiency may intensify sleep disturbances, further worsening cognitive deficits. Current research aims to restore FMRP levels or target affected neural pathways, though clinical success remains limited. While treating SD symptoms with known strategies may offer temporary relief, understanding the relationship between FXS and SD is crucial for developing other comprehensive treatment strategies.

Item Type: Thesis (Bachelor's Thesis)
Supervisor name: Havekes, R.
Degree programme: Biology
Thesis type: Bachelor's Thesis
Language: English
Date Deposited: 10 Jun 2024 08:02
Last Modified: 10 Jun 2024 08:02

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