Huntington's disease

Huntington's disease
Huntington's disease is a neurodegenerative disorder that affects 30,000 Americans annually. A disease is rare, the genetic cause, that cause the destruction of parts of the brain, degeneration of some parts and irreversible destruction of neurons.

 
It is caused by a mutation in a gene that produces a substance that interferes with normal brain metabolism. It is an autosomal dominant disease. If one parent shows the disease, the chances that offspring inherit the disease is 50%.

 
People who inherit the disease are heterozygous, the individuals are homozygous lethal disease. Huntington's disease gene, called IT15, is located on chromosome 4p and encodes a protein called huntingtin, which is found in neurons. The gene carries an extra segment with a particular sequence of repeated subunits. If the gene is too large, it produces a faulty protein. This protein is responsible for metabolic disorders that occur in nerve cells, including neuronal death. There is a marked decrease gamma-aminobutyric acid (GABA) in the basal ganglia, as well as other neurotransmitters such as substance P and enkefalinele. The disease predominantly affects the striatum, and in the middle and late stages of the disease affected nucleii call that caudate atrophy. Gliosis and neuronal loss occurs in the caudate and putamen thorn.

 
Clinical features of the disease are chorea and behavioral disturbances (hence the variant of "Huntington's chorea).

 
The disease is characterized by rapid movements, sudden loss of mental ability and dementia, memory problems subsequently appear, personality disorders, behavioral disorders.

 
Symptoms usually occur after age 40 years, being affected mainly persons 50 to 60 years. Symptoms may appear insidiously, first as a discrete anxiety disorder, the movement is slowly progressive over time and can lead to disability. Movements appear reflexes of the body or any member of the trunk, the reflexes are sharp and without any apparent reason.

 
Touched a patient's chorea movements are rapid, large, involuntary, jerky. Accompanying mental disorders like irritability, depression, anxiety are accompanied by intellectual deterioration may progress to dementia. Juvenile onset is found where the father is sick father. Early onset disease is characterized by rigidity, ataxia and cognitive decline, seizures, evolution is rapid with a length of about eight years.

 
There are currently no targeted treatment for Huntington's disease. But researchers at MassGeneral Institute for Neurodegenerative Diseases have discovered a compound that could stop the effects of the disease. This compound is a molecule called C-2-8 which is capable of reducing loss of motor control. Treatment is in research phase.