Final_6_Huntingtons Flashcards
Protein aggregation
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
Huntington’s disease
an autosomal dominant genetic disorder
Autosomal dominant
One affected copy of the gene is enough to cause
disease. An affected person has a 50% chance of passing on the disease.
Polyglutamine disease
expansion of the cytosine-adenosine-guanine
CAG) repeat encoding the amino acid, glutamine (Q
What causes Huntington’s
CAG repeat mutation (polyglutamine)
Huntington’s Disease is characterized by the loss of ____________________. Initial
signs of Huntington’s Disease include personality changes, chorea and
________________.
Medium spiny neurons; cognitive impairment
Huntington’s Disease is caused by a mutation in the HD gene that leads to an
expansion of a ____________ repeat.
polyglutamine
To best study mechanisms underlying Huntington’s disease in iPS cells, one would
differentiate into which of the following cell types:
d. Medium spiny neurons
How does the polyglutamine (CAG repeat) in Huntington’s disease cause specific
symptoms?
Researchers do not know how the polyglutamine repeat leads to
specific symptoms.
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
c. They have an even chance