Lec43 - Lec43Mutation BBiology 1222 io022 Haffie 09/10...

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Bio022 Biology 1222 Haffie 09/10 Lec 43 Mutation
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Bio022 Biology 1222 Haffie 09/10 Huntington Disease Ubiquitinylated “huntingtin” proteins  accumulate in neurons Mutant proteins aggregate to form insoluble  amyloid fibrils  in vitro   Causes progressive, fatal, neurological  decline in motor function, personality and  cognitive ability. Shows “genetic anticipation”, usually when  paternally inherited. Can arise spontaneously in a family George Huntington 1872
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Bio022 Biology 1222 Haffie 09/10 Huntington Disease Underlying mutation is an expanding CAG repeat  in the first exon (CAG) 6-35  - normal (CAG) 40+  - affected (CAG) 70+  - juvenile onset  Mutation can result from errors in replication,  repair or recombination . .
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Biology 1222 Haffie 09/10 Underlying mechanism. . . 5’
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Lec43 - Lec43Mutation BBiology 1222 io022 Haffie 09/10...

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