Biology 2581B Study Guide - Quiz Guide: Amyloid Precursor Protein, Psen1, Psen2
15 Sep 2020
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Often present in more than one generation and prominent in lots of other family members. App protein (transmembrane) is supposed to be polymerized into two pieces. Psen1 or psen2 mutations (enzymes) break the wrong part by causing more beta and gamma cleaving rather than alpha. Causes b-amyloid plaques to build up extracellular layer. Intracellular tangles, neurological loss, progressive deterioration of memory and cognitive functions. Certain cultures of people more likely to have certain types of this because of inbreeding, more concentrated gene pools, leads to decreased heterozygosity in the populations. Exogenous: induced, mutagen exposure denovo mutations occur after birth. Carrier = heterozygote = has potential to give gene but phenotype not shown. Sex-linked mutations occur on sex chromosomes, on either x or y. y linked is easier to discover because it will be present in all men above. X linked traits in men can be either dominant or recessive.
