NEUR 3502 Lecture Notes - Lecture 13: Fmr1, Premature Ovarian Failure, Neurodevelopmental Disorder
15 Jul 2020
School
Department
Course
Professor
Document Summary
Fragile x syndrome: fxs, most common monogenic, inheritable form of mental retardation. Inherited error in a gene called fmr1: affects the production of a protein called fmrp. If fmr1 is mutted or abnormal it can lead to a loss of fmrp. Increased methylation: causes gene silencing: gene thus cannot produce the eventual protein that it should, the more repeates the more methylation you have. Little or no fmr protein is formed as a consequence: deficiency in fmrp results in the behavioural and physical phenotype observed in fragile x patients, fragile x associated tremor/ataxia syndrome (fxtas) Late on-set neurodegenerative disorder: formation of intranuclear inclusions in fxtas. Metabotropic glutamate receptor: potential target of the fmrp, without the protein too much is produced, function in synaptic plasticity and learning. Long term depression (ltd) - reduced efficacy of synaptic transmission seen in fxs: mrna regulation in neurons.
