Researchers from the University of Szeged, in Hungary, have taken some important strides by studying fruit flies to understand more about Huntington's disease.
About Huntington’s disease
- It is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain.
- It has a wide impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
- There are two types of Huntington’s disease:
- Adult onset: This is the most common form. Symptoms usually begin after age 30.
- Early onset (juvenile Huntington’s disease): Early onset affects children and teenagers. It’s very rare. When Huntington's develops early, symptoms are somewhat different and the disease may progress faster.
- A genetic change (mutation) of the HTT gene causes Huntington’s disease. The HTT gene makes a protein called huntingtin. This protein helps your nerve cells (neurons) function.
- The normal HTT gene contains a stretch of DNA that specifies the number of times the amino acid glutamine is repeated in the Htt protein. This number varies from 11 to 31.
- In the mutant versions of the HTT gene, this stretch is expanded to encode 35 or more repeats.
- As the number of repetitions increase, the severity of Huntington’s disease increases and its debilitation begins at an earlier age.
- Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms.
- The patient suffers mood swings, has difficulty in reasoning, shows abnormal and uncontrollable jerky movements, and experiences difficulty in speaking, swallowing, and walking.
- Treatment: Medications are available to help manage the symptoms of Huntington's disease. But treatments can't prevent the physical, mental and behavioral decline associated with the condition.
Q1) What are proteins?
Proteins are large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for the structure, function, and regulation of the body’s tissues and organs. Proteins are made up of hundreds or thousands of smaller units called amino acids, which are attached to one another in long chains.