Lenco Diagnostic Laboratory Blog

Home Contacts Register

Tubes
Site Feed

10/20/2011 1:04:34 PM

Time Does Not Heal All

Huntington`s disease is a disorder passed through genetics where nerve cells in certain parts of the brain waste away, or degenerate. Specifically, Huntington`s disease is caused by a genetic defect on chromosome 4 which causes a part of your DNA called a CAG repeat to occur more times than it normally should. Typically this section of your DNA is repeated only 10 to 28 times, but for a person afflicted with Huntington`s disease, it can be repeated anywhere from 36 to 120 times in your DNA sequence.



Because Huntington`s is a hereditary disorder and the gene is passed through generations; not only do the number of repeats increase, but symptoms develop at a younger age than that of the previous generation. There are two forms of Huntington`s disease. Most commonly seen is adult-onset where it develops in a person`s mid 30`s- 40`s, less common is early-onset which begins during childhood or adolescence. Huntington`s disease gradually worsens, causing disability, paranoia, hallucinations, speech impairment, rigidity and tremors to name a few of the symptoms associated with it. If you have a parent with Huntington`s disease you are at a 50% risk of developing Huntington`s yourself. People afflicted with Huntington`s usually die within 15 to 20 years following diagnosis. The most common cause of death is infection followed by a close second of suicide.



Recently there have been new developments in measuring indicators of this hereditary illness will also increase effectiveness of current treatments. A new study conducted by the Women`s Hospital in Boston has discovered that patients with Huntington’s disease have higher levels of expression of a gene (our genetic code stored in DNA is ``interpreted`` by gene expression), called H2AFY in their blood when compared to healthy people. What`s more, patients treated with a drug that slows the effects of the disease had reduced levels of H2AFY activity compared to people given a placebo. This advocates that H2AFY could serve as a toll to observe the progression of the disease and whether potential treatments are working. The H2AFY serves as a biomarker by measuring the H2AFY activity in blood cells of trial participants before and after they began taking sodium phenylbutyrate (a drug compound) and as the patients diagnosed with Huntington`s continued to take the compound, the researchers found decreasing H2AFY activity --a possible sign that the drug-like compound might be slowing the nerve-cell damage inflicted by the disease.



An estimated 30,000 people in the U.S. alone have been diagnosed and roughly 150,000 people are at risk of developing it. As of right now there is no cure for Huntington`s disease but there are treatment options and with newer ones arising, there may be hope yet. For more information talk to your healthcare provider and visit:www.hdsa.org/

See Email Marketing In Action!

Expert email tips from our Education Team

Contacts Us

Register