IMAGINE a disease so severe, that even though there's a blood test that can tell if you have the disease no one wants to be told they have it.
Huntington’s disease (“HD”) is a genetic disorder commonly confused with the effects of Alzheimer’s, Parkinson’s and Schizophrenia, that causes the loss of neurons in a specific part of the brain, the basal ganglia (responsible for performing an important role in motor and intellectual functions of the human body).
HD develops when a certain part of the gene’s DNA sequence is repeated an abnormal number of times and is caused by having 40 or more copies of C-A-G codons simultaneously in a region of the DNA that comprises the Huntington gene. The gene repetition disrupts the function of the Huntingtin protein normally produced by the Huntington’s gene, resulting in the neuron loss, creating death of nerve cells and structural problems with the basal ganglia.
Occurring in approximately 1 in 10,000 people HD kills brain cells, depriving its victims of their abilities to speak, eat, think, and walk over a period of years. The first symptoms of HD usually appear between the ages of 30 and 45 and the disease progresses slowly and eventually results in complete immobility, ending in death 15 to 20 years after diagnosis.
Gene therapy research for HD is aimed at finding viruses that can reach the diseased nerve tissues with the least immune response, thus letting the virus enter the body undisturbed. Currently, viruses are used to carry the replacement DNA into these cells. These viruses have had their harmful properties removed. It is evident that Gene therapy could give HD victims the answers to a cure; however problems can arise if the body distinguishes the viruses as foreign and mounts an immune response causing the therapeutic DNA to erase any beneficial effects.
Whilst there is no cure for Huntington’s disease at present; there are some positive developments on the horizon. We can only hope that gene therapy will result in a breakthrough treatment that will curtail the onset of the disease.
Posted by Ella Hilton
-Australian Huntington Disease Association:
- BBC News - Health
-National Institute of Neurological Disorders and Stroke:
Student number: 41759477