Exam (elaborations)
N172 EXAM QUESTIONS AND ANSWERS
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N172 EXAM QUESTIONS AND ANSWERS...
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Lysosomes - ANSWER cellular organelles that break down large wasteproducts of metabolism, damaged organelles, or foreign particles
what cellular entity allows degradation of a wide variety of metabolites -
ANSWER lysosomes
why are dividing cells less susceptible to lysosomal storage problems -
ANSWER Cells that divide are less susceptible to lysosomal storage
problems bc they can spread "trash" amongst cells
what type of cells just accumulate "trash" - ANSWER neurons don't
divide so they just accumulate "trash"
one example of a lysosomal storage disease - ANSWER Sandhoff
disease
what kind of inheritance is Sandhoff disease - ANSWER Autosomal
recessive
what kind of mutation is seen in Sandhoff disease - ANSWER b-
Hexosaminidase loss of function
Symptoms of Sandhoff disease - ANSWER Muscle weakness,
blindness, deafness, respiratory problems, mental retardation, seizures,
enlarged liver and spleen
what kind of treatment used for Sandhoff disease patients - ANSWER
Supportive treatment include proper nutrition and hydration and keeping
the airway open
what is the main challenge with Sandhoff disease treatments - ANSWER
enzymes cant pass the blood-brain-barrier
, how are enzymes transfered from NSC to host neurons in Sandhoff
disease? - ANSWER Some lysosomal enzyme leaks out and is picked
up by the host cell which accounts for the small increase
how can NSC be modified to secrete more - ANSWER These NSC can
be modified to produces more lysosomal enzymes so more can be
leaked out and picked up by host cells
what type of mutation occurs in Gaucher Disease - ANSWER loss of
function mutation in GBA
what kind of inheritance is Gaucher Disease - ANSWER Autosomal
recessive
what happens if theres no glucocerebrosidase(GBA) in lysosomes? -
ANSWER lysosomes unable to digest lipids in rbc, the build-up causes
cell to swell
what percent of gauchers disease is type 1 - ANSWER 95%
what is the worst type of Gauchers disease - ANSWER type 2
if theres a mutation in GBA what are the odds of developing PD -
ANSWER 4x more likely
whats a therapy one can use for type 1 gaucher disease - ANSWER
Enzyme Replace Therapy (ERT)
What is the #1 killer of children and young adults in the US and is even a
silent epidemic - ANSWER Traumatic Brain Injury
have there been any successful phase 3 clinical trials for TBI - ANSWER
27 failed phase 3 trials
whats the leading cause of TBI - ANSWER falls at 33%
some symptoms of mild TBI - ANSWER loss of consciousness for 30
minutes or none at all, headaches, balance problems
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