Final_6_Huntingtons Flashcards

1
Q

Protein aggregation

A

A protein changes its native conformation state to a nonnative

conformation -misfolding of the protein occurs
Protein aggregation results in protein strucutres that are
toxic to the cells

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2
Q

Huntington’s disease

A

an autosomal dominant genetic disorder

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3
Q

Autosomal dominant

A

One affected copy of the gene is enough to cause

disease. An affected person has a 50% chance of passing on the disease.

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4
Q

Polyglutamine disease

A

expansion of the cytosine-adenosine-guanine

CAG) repeat encoding the amino acid, glutamine (Q

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5
Q

What causes Huntington’s

A

CAG repeat mutation (polyglutamine)

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6
Q

Huntington’s Disease is characterized by the loss of ____________________. Initial
signs of Huntington’s Disease include personality changes, chorea and
________________.

A

Medium spiny neurons; cognitive impairment

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7
Q

Huntington’s Disease is caused by a mutation in the HD gene that leads to an
expansion of a ____________ repeat.

A

polyglutamine

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8
Q

To best study mechanisms underlying Huntington’s disease in iPS cells, one would
differentiate into which of the following cell types:

A

d. Medium spiny neurons

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9
Q

How does the polyglutamine (CAG repeat) in Huntington’s disease cause specific
symptoms?

A

Researchers do not know how the polyglutamine repeat leads to
specific symptoms.

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10
Q

Samantha’s father is a carrier of the HTT gene mutation that causes Huntington’s
disease, but her mother is not. Is Samantha or is her brother Richard likely to have
inherited Huntington’s disease?
a. Samantha is more likely
b. William is more likely
c. They have an even chance
d. Neither will have Huntington’s disease

A

c. They have an even chance

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