Lucy Mogan, Jake Wheeler, James Karr, Sebastian Orellana

Huntington’s Disease

Task:
1. The task is in detail describe how a protein can cause a disease by going into detail what
protein synthesis is, compare normal to diseases protein, and give a general background
info of the disease.
2. Disease Questions
a. What is it?
Huntington’s disease is a genetic ailment caused by the exponential death
of nerve cells in the brain.
b. What parts of the body does it affect, symptoms
Brain and muscles; can hurt acquirement of new information, lack of
executive functioning, hurts balance, and causes involuntary physical reactions.
c. What protein is affected
Huntingtin, plays an important part in nerve cells in the brain
d. Who is likely to get it
Every child of a parent with HD has a ½ chance of inheriting the expanded gene
that causes the disease. If the child has not inherited this expanded gene, he or she
will never develop the disease and cannot pass it on to their children.
(https://hdsa.org/what-is-hd/#risk)
e. What are the treatments? Cure?
There is no cure but certain drugs and physical therapy can help fix some parts.
f. What are the barriers to curing it?
It is caused by dangerous molecules leaking from the bloodstream into the brain through
weak protection systems, if these barriers could be re enforced then the disease could be
treated. (https://huntingtonsdiseasenews.com/2017/05/18/researchers-discover-why-
defects-form-blood-brain-barrier-huntingtons-disease-patients/)
g. Any interesting research going on now?
They are currently doing stem cell research to test different treatments and drugs
for Huntington’s
 3. Protein Synthesis questions
a. For each stage:
Transcription, Translation
b. What is happening→ how and why
Transcription: Nucleotides form mRNA in the nucleus, which then leaves the
nucleus to go through the cytoplasm;;; Translation: mRNA forms polypeptides
with tRNA in the ribosome
c. Where is it happening
d. What are the major players
e. What is the code/ sequence
f. End with a 3D model of the protein

Transcription-
● DNA is split apart and RNA polymerase adds nucleotides to the other side to complete
the mRNA
● This happens in the nucleus
● Once the mRNA is completed it goes out of the nucleus and into the cytoplasm
● The DNA sequence is AAC, TTC, TCT, TTC, CAG, AAT, TCC, ATG
● The mRNA sequence is UUG, AAG, AGA, AAG, GUC, UUA, AGG, UAC
Translation-
● The introns on the mRNA are cut out
● The mRNA chain attaches to a ribosome
● The ribosome reads the mRNA
● tRNA bring the correct amino acids that correspond to the mRNA by using codons and
anticodons
● creates a polypeptide chain
● The amino acid sequence is Leueine, Lysine, Arginine, Lysine, Glutamine, Leucine,
Arginine, Tyrosine
Protein Folding-
● Occurs in the ER
● A straight polypeptide chain folds into a 3d shape to execute its own unique function
● There are four stages to protein folding: primary, secondary, tertiary, and quaternary
● Each stage has different structures, such as α-helices, loops, and β-sheets.
● Primary- polypeptide chain forms in cytoplasm
● Secondary- starts folding in the rough ER, will form α-helices and β-sheets
● Tertiary- hydrophilic or hydrophobic dictate more folding in rough ER and golgi body
(hydrophobic on the inside and hydrophilic on outside)
● Quaternary- becomes a functioning protein in golgi body
 Works cited:
“Huntington's Disease.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 16
May 2018, www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-
causes/syc-203560w4117.
Melão, Alice. “Huntington's Researchers Reveal Why Defects Form in Blood Brain Barrier.”
Huntington's Disease News, Huntington's Disease News, 18 May 2017,
huntingtonsdiseasenews.com/2017/05/18/researchers-discover-why-defects-form-blood-
brain-barrier-huntingtons-disease-patients/
HTT Huntingiin, NCBI, November 11,2018
https://www.ncbi.nlm.nih.gov/gene/3064
https://stemcellsjournals.onlinelibrary.wiley.com/doi/full/10.1002/stem.2747
https://www.britannica.com/science/protein
https://www.news-medical.net/life-sciences/Protein-Folding.aspx
https://www.sciencedaily.com/terms/protein_folding.htm

Transcription:
 Is the DNA
split?

Ye N
s o
Have the nucleotides been
Split the
added?
DNA

Ye N Add the
s o nucleotides
Has the mRNA left the
nucleus?

Ye N
s o

Proceed to Exit the mRNA from the

translation nucleus
Translation:
 Are the introns
cut out of the
Y mRNA?
N
e
Has o
s the mRNA chain Cut out
been attached to the
Attach the
Yribosome? introns
N the
e
Has the o mRNA
s tRNA bring the correct amino acids
ribosome read chain
Y that correspond to the mRNA by
the mRNA?N
e
o
Hass the tRNA The ribosome using codons and anticodons
brought the correct should read the creates a polypeptide chain
Y
amino acids? mRNA
N
e The amino acid sequence is Leueine,
o
s Lysine, Arginine, Lysine, Glutamine,
The tRNA should
bring the amino Leucine, Arginine, Tyrosine
The polypeptide is formed
acids
and the protein is done
synthesizing!