BIMM 110 Molecular Basis of Human Disease

TA: George Chen gtchen@ucsd.edu

OH: Tu 12:30-1:30 Sierra Summit or by appointment See Announcements
Section: W 4:00-4:50 Center 203

Problem Set 9
Announcements:
• My Wednesday section this week will be lead by Stephanie.
• This problem set (and the last two lectures) will be discussed in my Friday section.
• Because of my Friday section, Tuesday office hours are canceled
• FRIDAY SECTION: Friday June 5th, 4-6pm, Cog Sci Building (CSB) 5
• Check WebCT for final room information
• Review session with Professor Zhang: Saturday June 6th, 10am-12pm, Center 105
• This problem set covers lecture 16 and 17.

1. Describe the structure of the dystrophin protein and point out which regions are mutated in
Duchenne's and Becker's Muscular Dystrophies. How do these regions explain the difference in
age of onset between the two diseases?

2. A HE stain of a patient's hip muscle shows muscle fiber bundles that appear to be somewhat
porous; that is, negative space exists between bundles. What can you conclude about this
patient's DMG gene?

3. What features of the dystrophin gene allow for a high degree of mutation within the gene?
4. Match the following diseases to their characteristics.

DMD Weakness along hips and shoulders

BMD Enlarged calves

LGMS Enlarged ventricular chambers

DCM Shortened dystrophin protein

5. The dystrophin gene was discovered in female patients by locating a __________________,

while in males the gene was found by looking for a _________________.

6. Down Syndrome patients have been known to suffer from early onset Alzheimer's Disease.
How is this explained at the molecular level?

7. In House MD, Dr. Remy “Thirteen” Hadley has a familial history of Huntington's Disease. How
would she test to find out if she will develop Huntington's? What result would indicate definite
disease development? What result would indicate indefinite disease development?

8. What drug may a doctor prescribe as therapy for Fragile X syndrome? How would this drug
work to reverse the effects of the syndrome?
9. In terms of trinucleotide repeat expansion diseases, how do nucleotide repeats contribute to
an earlier onset of a disease?

10. All of the following structures are observed in Alzheimer's Disease patients except:

a. Tau tangles
b. APP plaques
c. Inclusion bodies
d. All of above are observed
e. None of above are observed