Huntington’s Disease : New Research
New Research uncovers delayed effects of genetic mutation in Huntington’s Disease development.
- Huntington’s Disease (HD) is a genetic condition that affects the cells in the brain.
- It affects the cells in parts of the brain that regulate voluntary movement and memory.
- A genetic mutation of the HTT gene causes Huntington’s disease.
- The HTT gene makes a protein called huntingtin. This protein helps the nerve cells (neurons) function.
- HD is caused by the misfolding of the huntingtin. The misfolding is due to the mtation.
- If someone has HD, her/his DNA does not have all the information needed to make the huntingtin protein.
- As a result, these proteins grow in an abnormal shape and destroy (instead of help) the neurons.
- The destruction of nerve cells happens in the basal ganglia,or the region of the brain that regulates body’s movements.
- It also affects the brain cortex(surface of the brain) that regulates thinking, decision-making, and memory.
- Huntington’s disease affects an estimated 3 to 7 out of every 100,000 people, most often people of European ancestry (biological family comes from European descent).
- Common symptoms include uncontrollable dance-like movements (chorea) and abnormal body postures, as well as problems with behavior, emotion, thinking, and personality.
- Other symptoms may include tremor (unintentional back-and-forth movement in the person’s muscles) and unusual eye movements.
- The eye movements can happen early in the disease.
- These symptoms get worse over time.
- There is no treatment that can stop or reverse HD, but health care providers can offer medications to help with certain symptoms.
- Drugs like haloperidol, tetrabenazine, and amantadine are especially helpful for controlling the unusual movements caused by Huntington disease.
