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Mechanisms

mechanisms

http://www.bcm.tmc.edu/neurol/struct/hunting/huntp1.html

Level II

1. What is the etiology and mechanism of the disease?

It is of Western European Descent. The disease works from the gene level. The Huntington gene contains a section of C-A-G bases. When there is an excess of these bases (which code for glutamine), Huntington usually develops. Because there are so many glutamines, the

Huntington protein folds into a different shape than normal. Huntington interacts with other proteins especially in the brain. Researchers believe that a protein cuts Huntington and the pieces go into a neuron nucleus. This builds up. The true purpose of the clumps of the pieces of the Huntington protein is not clear. What Huntington does is a mystery. It starts before much cell death has occurred and it shrinks the brain.

Level III #2

Huntingtons disease is an autosomal dominant gene located on the IT-15 gene of the chromosome 4p16. Being an autosome, the defected gene can be found in either males or females. As per the website by Debra Collins (www.kumc.edu/hospital/huntingtons/genetics.html) the disease does not have a higher affecting chance of children with diseased fathers. Thus, males and females have the same chance of having affected children with 50% chance of the child being affected.

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