What is Huntington’s Disease?

 

Huntington’s Disease is a progressive, neurodegenerative disease that causes brain cells in the Basal Ganglia to diminish over time. Initially, this disease was named Hereditary Chorea because of the nature in which it develops. The genetic mutation that causes Huntington’s Disease is present at birth and is a result of specific building blocks of ones DNA being replicated more times than they should. The child of an individual who has the genetic mutation for Huntington’s Disease has a 50% chance of inheriting the mutation.

The specific gene that Huntington’s Disease develops on is chromosome 4. Children inheriting the copy of chromosome 4 that carries the disease from their parent will inevitably develop the symptoms of Huntington’s Disease over time. The gene that Huntington’s Disease resides in is responsible for producing a specific type of protein called Huntingtin. Huntingtin’s primary function in the body is unknown at this time but is believed to play a significant role in the early development of nerve cells.

This disease is characterized by a significant loss of brain cells, or neurons, in the part of the Basal Ganglia called the Striatum. An important function of the Striatum is the control of voluntary movement. The loss of neurons in this part of the brain results in the loss of ones ability to control movements of the body. Huntington’s Disease also impacts the outer layer of the brain called the Cerebral Cortex. This part of the brain plays a significant role in memory, perception, and emotion. At this time, there is no cure for Huntington’s Disease nor has there been a method developed to slow the progression of symptoms.