BMD RES 10H Lecture Notes - Lecture 3: Tsc1, Blind Luck, Mecp2
11 Oct 2017
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Cyfip1 (overexpression) and how this can potentially cause autism (most common disorder within the spectrum), developmental disorder autism - ted talk. Cell culture also considers a model organism/system. Main topic: autism, asd, mouse model, dup15q (old notation), cyfip1. How can use mouse to represent a human and see if the mouse can make more. Asd clinical def: impaired social communication and repetitive stereotyped behavior. Dr. elaine hsaio (also studies autism) - how having the wrong bacteria in gut link to. Genetic mutations (the mutations lead to certain syndromes which could link to autism, not guaranteed, raise chance): 100+ mutations: fmr1 (fragile x) - dr. kugler talked about this, tsc1 (tuberous sclerosis, 15q11-13 (angelman, 22q11. 2 (digeorge, mecp2 (rett) Cause by braining forming slightly differently (looks perfectly normal) Tweak brain development then the behavioral outcome also changes. Circuits could be correct but the neurons aren"t firing at the right speed. Abnormalities are in the firing and functioning of neuronal circuits.
