Explain the cause of Lucy’s condition.

(Hint: Think back to Grade 11 Biology! )

—-- Protein Synthesis: Amino Acids, DNA, RNA, Transcription, Translation, Codons, Gene
Expression…

Explain how you discovered Lucy’s Condition: (use scientific terms)

I think that it was The stop codon mutation, which has been causing Lucy’s immunodeficiency
disease. This mutation created a stop codon too early in the amino acid sequence, making it so
it's not providing the proper function of a protein.

How did the stop codon mutation in Lucy's ADA gene stop her ADA protein
from working?

From all the testing we did, I Was able to tell she had ADA-SCID. I was able to determine this
because when we collected her HIV Proteins, there was nothing suspicious, BUT... when we
collected her deoxyadenosine levels, they were very elevated compared to "normal". If
someone has ADA-SCID, their blood will show high concentrations of deoxyadenosine, which is
what Lucy’s blood did!

So what happened in Lucy's case is that a sequence became mutated in the amino acid
sequence. This makes a stop codon too early in the amino acid sequence. Because the stop
codons stop the translation process of a protein, Lucy's mutation will make the protein irregular ,
and not function properly, because it will be shorter in length.

Your scan of Lucy's ADA gene showed a mutation in the active site. Why
was this mutation not a problem?

The results from the second experiment made it clear that even though Lucy's tRNA had some
wrong amino acids , there was a stop Codon mutation which resulted in her ADA enzyme from
363 to 283 amino acids, making her ADA enzyme not work, and making that the BIGGEST
issue
Explain how stem cell therapy helped Lucy. (hint: deoxyadenosine)
Stem cells are able to change into other types of cells. The therapy was able to assist Lucy
because they can easily be changed into white blood cells. The white blood cells were able to
work with the ADA enzymes. The two things were able to break down the toxin. For Lucy the
white blood cells that are required are found in the bone marrow. With that being said Lucy can
undergo a surgical procedure to retrieve a piece of her bone marrow. The marrow can then be
placed under a petri dish to in the best possible conditions keep them healthy. With the help of
technology, the stem cells will have the ability to duplicate and grow so Lucy can have a ton of
these strong cells!
At the end of the therapy, the cells will get re-inserted into her bone marrow and change to great
white blood cells. She will then have the ability to break down all those toxins and have a much
stronger immune system, able to fight off these toxins in the future .