Part I:
I am known as Huntington’s disease. I’m caused by a mutation in a gene on chromosome 4. The gene is called the HTT gene. This gene occurs in every human, it provides instructions for making a protein called Huntingtin. Huntingtin is found in many of the bodies tissues and in the brain. One main reigon of the HTT gene contains a specific DNA segment, something called a CAG repeat sequence. This segment is made up of three DNA building blocks: cytosine, adenine and guanine (C,A,G). They appear multiple times together in a row. Normally the CAG segment appears 10 to 35 times in a gene but in my case (Huntington’s Disease) the gene contains an oddly large number of CAG repeats. In my gene The CAG segment is repeated 36 to 120 times. And the larger number of triplet repeats there are the earlier someone will develop Huntington’s disease. The increase in the CAG segment leads to a abnormally long version of a Huntington protein. The long protein is cut into smaller toxic fragments that mix together and accumulate in neurons disrupting the normal functions of the cells. This disruption can cause the death of neurons in certain areas of the brain are symptoms of me. No scientist/ doctor has found a cure or ways to prevent me yet.
My host Syrena is 18 years old. She is 1 out of every 8,065 individuals that will be affected my me. I effect the basil ganglia, when people are affected by me they move in odd movements-called chorea. I usually affect people in the age of 30-40 but in some cases I can affect younger adolescents as well. (Juvenile Huntingtons disease) Serena most likely got this hereditary disease from her father but it could potentially also be her mother. Serena was never very good with academics but recently there’s been a rapid decline. Her handwriting has changed and she has problems with movement such as slowing down rigid movement and tremors. Several of these symptoms are similar to those seen in Parkinson’s disease she also experiences seizures and mental disabilities.Serena’s mom took her to see a neurologist. The neurologist looked at all medical history, recent emotional problems, family history, strength, coordination, involuntary movement, sensations, balance, reflexes, and finally a genetic testing. A genetic testing is usually done to confirm a diagnosis. In the end my host was diagnosed with me. Juvenile Huntingtons Diesase.
Serena’s family is devastated as she only has about 10 to 15 years left in her life. There is no cure to get rid of me. But there are small ways to improve the time she has left. That includes physicians that can help with movement problems medications to help control emotional problems and prevent seizures. There are also clinical trials that use different pharmaceuticals. A clinical trial is where they test a type of drug and randomize who gets the actually drug and who gets the placebo. The rest of Serena’s life will be in and out of the doctors offices and physicians offices to try and give her the best life possible.
Part II:
Some questions I had before starting my genetic mutation story were;
What is Huntington’s disease?
What causes it?
How many people are affected?
What type of mutation is it?
What happens to the chromosomes?
What are some of the symptoms?
Around what age does it appear at?
How is it diagnosed?
Is it curable?
What is a CAG repeat sequence?
Is it hereditary?
Is it preventable?
Why does it occur?
Is it a deletion, addition, or substitution?
Here are some of my main sources I used to do my research:
https://ghr.nlm.nih.gov/condition/huntington-disease#
https://ghr.nlm.nih.gov/gene/HTT
http://learn.genetics.utah.edu/content/disorders/singlegene/
https://rarediseases.info.nih.gov/diseases/6677/huntington-disease
http://huntingtonstudygroup.org/hd-insights/how-many-people-have-huntington-disease/
sources for for my pictures;
https://ghr.nlm.nih.gov/condition/huntington-disease
http://www.calgarycmmc.com/huntingtonsdisease.htm
Here are some Tools I used for research:
Rare diseases website: https://rarediseases.org
Diseases website: http://www.hopkinsmedicine.org/psychiatry/specialty_areas/huntingtons_disease/patient_family_resources/education_whatis.html
Ebsco: http://connection.ebscohost.com/c/reference-entries/62146816/huntingtons-chorea-huntingtons-disease
Youtube
Assess:
Overall, I thought the process of creating this project went super well. I really liked how we had to go in depth about the Disease we chose, and by doing that we also got to experience real-life example of mutations. I am very proud of my end results. I have discovered many new things about genetic mutations and Huntingtons disease. I think for next time, I should understand what’s fully going on before I write anything down, read through everything and have a good understanding of it. In the end, I feel I can look back and say that I understand mutations, genes, and DNA much better than I did before this project. This assignment made me realize that anything can happen to you so you should go to the doctors regularly and get check ups regularly as well.