In the year 1599, William Shakespeare wrote a famous play called “Julius Caesar.” In this play, he wrote of a character named Cassius who said, “The fault, dear Brutus, is not in our stars. But in ourselves that we are underlings.” This quote can be applied to many aspects of life and one such aspect is Huntington’s disease.
Huntington’s disease (HD) is an inherited disorder that causes nerve cells in the brain to break down. The disease affects movement control, cognitive function and behavior. It has been estimated that HD affects around 1 in 10,000 people worldwide.
HD is caused by a mutation on chromosome four which produces an abnormal form of the protein huntingtin. This protein accumulates in certain areas of the brain causing damage and eventually death of neurons responsible for movement control.
Symptoms usually develop between ages 30 and 50 but can occur earlier or later in life. Early symptoms include mood swings, irritability, depression and difficulty concentrating. As the disease progresses it leads to jerky movements or chorea as well as muscle stiffness and slowness.
There are two types of HD; adult-onset HD which accounts for about 90% of cases and juvenile-onset HD which accounts for less than 10%. Juvenile-onset HD starts before age twenty with symptoms similar to adult-onset but also includes seizures and rapid decline leading to death within ten years from onset.
Currently there is no cure for HD but there are treatments available that can help manage symptoms such as medication to reduce involuntary movements or speech therapy if speech becomes impaired.
However prevention is key when it comes to HD because once someone has inherited the gene mutation they will develop the disease at some point during their lifetime. Therefore genetic testing may be recommended especially if there is a family history of the disease.
If someone tests positive for the gene they may choose not have children due to the 50% chance of passing on the disease to their offspring. Alternatively they may opt for in vitro fertilization and preimplantation genetic diagnosis which allows embryos to be tested for the gene mutation before being implanted into the uterus.
There is also research being done into gene editing techniques such as CRISPR/Cas9 that could potentially remove the mutant huntingtin protein from cells or replace it with a healthy version. However this technology is still in its early stages and much more research is needed before it can be used safely in humans.
In conclusion, Huntington’s disease is a devastating disorder that affects not only those who have it but also their families. While there are treatments available to manage symptoms, prevention through genetic testing and family planning is crucial. Research into potential cures such as gene editing techniques offer hope for future generations but until then we must work towards educating people about HD so they can make informed decisions about their health and well-being. As Shakespeare wrote, “The fault, dear Brutus, is not in our stars” but rather what we do with the knowledge we have been given about HD.