Huntington's Disease By: Vennila Ramasubramanian

The Gene and the Protein

The mutation that causes Huntington's disease occurs in the gene HTT. This gene produces the protein Huntingtin.

Discovery of the Disease

George Huntington gathered information from his father and grandfather who had treated family members with the disease. In 1872, he wrote a paper on his findings that detailed the disease thoroughly. His research took place in East Hampton, New York

George Huntington

Incidence Rate

  • In the United States about 5 out of every 100,000 people can be found with it.
  • Globally, the incidence rate can vary from 1 out of every 100,000 to 17 out of every 100,000.
Huntington's Disease is most commonly found with people with European descent or European ancestry.

Symptoms

The most evident symptom is involuntary movements because the brain is affected.

First Symptoms: behavioral changes

  • unusual mood swings
  • higher irritability
  • depression or angriness
  • likely to abuse alcohol and drugs

Worsening Symptoms: cognitive changes

  • trouble thinking and solving problems
  • memory impaired
  • sensory and spatial perception worsens
  • hearing voices

Physical Symptoms

  • jerky movements
  • clumsiness
  • flailing arms
  • slurred speech
  • muscle control - cannot chew or swallow
  • disturbed sleep

How is this disease Diagnosed?

To start, it usually comes near the time someone turns 40, but juveniles can get it too. When pregnant a woman can see if her child will have the disease with different tests. After child is born, neurological and psychological tests can be used to identify the disease. No tests can tell the age that one will be diagnosed.

Treatments

  • Treatments cannot slow progression of disease, BUT can make the patient more comfortable.
  • Treatments can ease anxiety and depression, control involuntary movements, and they include physical and speech therapy

Prognosis

  • People die within 10-30 years after symptoms start
  • If juvenile, usually die within 10 years after symptoms start

Genetic Pattern of Inheritance

  • Autosomal
  • Dominant

Current Research

In the August of 2015, scientists looked at chromosomes of over 4,000 people diagnosed with Huntington’s disease and saw that DNA repair genes can determine where the neurological symptoms begin. The scientists are trying to find ways to slow down or postpone the symptoms of Huntington’s disease since no treatments are proven to work well with this. Since the scientists knew which gene the disease started in, they went looking for where the disease started by looking in single letter changes to the DNA code on patients’ chromosomes that change the chances of getting the disease. They found 2 sites on chromosome 15 that were associated with the disease which would help them in future research.

Works Cited

“Autosomal Dominanant Inheritance.” Learn.Genetics, University of Utah, 2017, learn.genetics.utah.edu/. Accessed 2 Feb. 2017. Infographic.

Europe Map. Times Higher Education, IELTS, 2017, www.timeshighereducation.com. Accessed 5 Feb. 2017. Map.

George Huntington. Health Reference Center, Infobase Learning, 2015, online.infobase.com/. Accessed 2 Feb. 2017.

“George Huntington and Huntington’s Disease.” Health Reference Center, Infobase Learning, 2017, online.infobase.com/. Accessed 2 Feb. 2017.

Huntington’s Disease. Your Genome, Wellcome Trust Sanger Institute, 2017, www.yourgenome.org/. Accessed 5 Feb. 2017.

“Scientists adopt new strategy to find Huntington’s disease therapies.” NINDS Press Release, National Institutes of Health, 2015, www.ninds.nih.gov. Accessed 5 Feb. 2017.

“Single Gene Disorders.” Learn.Genetics, University of Utah, 2017, learn.genetics.utah.edu/. Accessed 1 Feb. 2017.

“Standard Protein BLAST.” Blast, National Library of Medicine, 2017, blast.ncbi.nlm.nih.gov. Accessed 1 Feb. 2017.

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