University of Puerto Rico at Cayey

Written Proposal: Is there a way to slow down the Huntington’s disease?

Alejandra González Torres

Biol- 3009

Prof. Edgar Llera Santos

With this investigation I intend to slow down the Huntington’s disease. This is a

hereditary disease, and it affects 1 in 10,000 people in the United States. With this in

mind, I will use the huntingtin protein to find a way to slow down the production of the

polypeptide. The methodology consists of three phases, in which I will alter the DNA

sequence. The first phase is to use living cells, in the second phase I will use rats and

the last phase humans.

Huntington’s disease is a disorder passed through families, where the nerve cells

waste away or degenerate in the brain. It is caused by a genetic defect in chromosome

4. Huntington’s targets the brain, triggering the death of cells vital for movement, mood,

speech and memory. This disease affects 1 in 10,000 people in the United States. By

this I intend that as I study the huntingtin protein sequence I would be able to slow down

the Huntington’s disease.

The process I am going to use is based in three phases. The first phase is to use

the cells infected with the disease. As the cells express the gene, I will alter the

huntingtin protein in order to find the way to slow it down. After phase one is completed,

I will test it on rats. The rats need to be in mating stage, so I can also study how it

passes through the offspring. The control or negative group is composed by a minimum

of 10 couples of rats. The control group will only be infected with the disease. The

positive or experimental group will be composed of a minimum of 15 couples of rats,

they will also have the disease but this will be treated by changing the protein. As phase

two is completed, I will move on to phase 3 which is using humans. All of the subjects

will have the disease, but for this experiment the symptoms need to be in their first

appearance or that the subject doesn’t present the symptoms at all. The reason of this

is that it will be harder to study the disease with people that have advanced

Huntington’s disease. The control group will consist of 20 couples with the disease, and

the experimental group will consist of 30 couples. I would be treating the subjects with

the same procedure as the rats, if something goes wrong with the humans, I will review

what I am administrating and make the pertinent changes. There is no reason why I

chose the numbers but the more subjects I have the better number of variables I’m

going to have. In phase two and three, I would have the pertinent documents of the IRB

to ensure the security of the experiment and that everything will be controlled.

As I finalize each of the phases I expect that by altering the huntingtin protein it

can slow down the disease and later on give a head start to find a way to stop the

disease. In phase one; I expect that as I alter the protein it will slow the repetition of the

triplet. Phase two, I expect an improvement in the rats, and that as they are treated their

offspring will have the modified gene. The last phase, which is the third one, I expect the

same or better results as in the second phase.

References:

Georgia Tech [Internet] Atlanta (GA): Available: http://gtresearchnews.gatech.edu/huntingtons-

disease/

PubMed [Internet] Boston (MA): NeuroRx [cited 2004 April 1] Available:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC534940/