What is Huntington’s Disease?

You don’t hear much about this disease, and I found it extremely interesting to read about.

Quick Answer: Huntington’s disease is an incurable, hereditary brain disorder. It is a devastating disease for which there is no currently “effective” treatment.

Nerve cells become damaged, causing various parts of the brain to deteriorate. The disease affects movement, behavior and cognition – the affected individuals’ abilities to walk, think, reason and talk are gradually eroded to such a point that they eventually become entirely reliant on other people for their care.

Huntington’s disease has a major emotional, mental, social and economic impact on the lives of patients, as well as their families.

Fast facts on Huntington’s disease

Here are some key points about Huntington’s disease. More detail and supporting information are in the main article.

–Huntington’s disease is, to date, incurable.

–Huntington’s disease attacks nerve cells gradually over time.

–The condition affects around 1 in 10,000 Americans.

–The first signs normally present between the ages of 35 and 55.

–Early symptoms may include mood swings, clumsiness, and peculiar behavior.

–During the later stages of the disease, choking becomes a major concern.

–Huntington’s disease is inherited dominantly, and genetic testing has been possible since 1993.

–The disease is caused by a faulty gene that makes an oversized version of the protein huntingtin.

–Huntingtin interacts with a protein called Rhes in the areas of the brain involved in motor control.

–Current medications only attack the symptoms rather than the underlying issues in Huntington’s disease.

Full article explaining Huntington’s disease: Causes, Symptoms & Treatments found here:  Medical News Today

Image:  News HD.net

**Musician Woody Guthrie (1912-1967) died from complications of Huntington’s Disease – Wikipedia.com

8 thoughts on “What is Huntington’s Disease?

  1. HowardGutman says:

    First, a disclosure. I am not a doctor or even a researcher, just someone who is concerned about HD and has done some research.

    The trinucleotide expansion that causes Huntington is basically a mutation. Typically the body has a group of controls which include cell repair and cell-death to stop or fix abnormal genes. Defective repair in an area called mismatch repair (MMR) has been identified as one cause of Huntington’s. Basically, the bad genes that should have been detected and repaired somehow get through.

    It appears some cancers also involve mismatch repair and we have chemotherapy drugs that impact the systems of cell repair. In one study, a group of colon cancer patients were identified with tumors exhibiting defective mismatch repair (MMR). (1) Chemotherapy drugs were more effective with this group indicating the drugs improved the system of cell repair. On its surface, there are similarities between Huntington’s and cancer; both involve duplication or multiplication of cells without regard to the system’s needs, and both seem to escape the systems of cell regulation that satisfactorily address many other cellular problems. One type of cancer associated with mismatch repair, hereditary nonpolyposis colon cancer, involves a hereditary component like Huntington’s.

    It’s conceivable that some existing chemotherapy drugs could help Huntington’s. This points to research partnerships involving some forms of cancer and Huntington’s. Development of a new drug addressing a new cellular target can take a decade and involve expenditures of hundreds of millions of dollars researching and creating the drug, evaluating its impact in animals and humans, checking side effects and determining its efficacy. However, using existing drugs for new uses could dramatically cut costs and the time for development. If FDA approved, the safety of the drug has already been evaluated. Our hope for a cure may include an old drug for a new use, and evaluating FDA approved cancer drugs for Huntington’s.

    For people with Huntington’s and their families, one goal is to expand research, which in my opinion includes trying existing drugs for Huntington’s. Discussion of possible partnerships, or targets for research is a start in my opinion. Perhaps HD families and patient can help to seek grants or funding for research, and play a role in seeking a cure.

    Conflict Disclosure

    The author has no association with any company conducting HD research.

    References
    (1) Defective mismatch repair status as a prognostic biomarker of disease-free survival in stage III colon cancer patients treated with adjuvant FOLFOX chemotherapy, Clin Cancer Res. 2011 Dec 7470 .
    (2) Implications of mismatch repair-deficient status on management of early stage colorectal cancer, J Gastrointest Oncol. 2015 Dec;6(6):676-84.
    (3) Fox, A genetic study confirms that minute differences in DNA repair genes can influence the age of HD symptom onset, HD Buzz (May 2, 2016)
    (4) Role of DNA Mismatch Repair Defects in the Pathogenesis of Human Cancer, J. Clin. Onc. 1174-79 (March 2003)

    Liked by 1 person

  2. douglasdegroot says:

    Thank you, for spreading awareness. I inherited the gene that will eventually cause Huntington’s disease. I have some more info in blogs if you’re still curious about HD. Did you know the second cause of death in Huntington’s disease is Suicide?

    Like

    • cherished79 says:

      Reading about Huntington’s Disease (I first became interested via a documentary), I can’t imagine the agony that it creates for both the person and family members when both diagnosed and as it progresses. I’m sorry this has happened to you. Stay well and strong. 🙂

      Like

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