Huntington's Disease: A Genetic Tragedy

One can inherit both good and bad traits from his parents. Sometimes the problem with genetics is that very harmful genetic disorders can be inherited through mutations in genes. Such is the case in Huntington's disease, a rare neurodegenerative genetic disorder. Huntington’s disease is more common in people with Western European descent, whereas Asian and African decendents are less likely to inherit this disease. The physical effects of this disease are prelavent mainly in the middle adult lifetime, mainly around thirty five to forty five years of age. The average lifespan of someone who is affected with Huntington’s disease is ten to twenty years after the onset of the first symptom. The cause of this disease is an autosomal dominant mutation. This means that there is a mutation in a chromosome that is not a sex chromosome. Since the mutation that occurs is dominant, this means that if the mutation occurs in either copy of the Huntingtin gene, the individual is affected by this disease. It also means that the child of the affected individual has a fifty percent chance of inheriting the disease.

            Neurodegenerative refers to the progressive loss of neurons in the nervous system. Since neurons deteriorate in this disorder, cognitive function, as well as muscle function tends to degenerate. Due to the deteriorating cognitive function Huntington’s disease causes psychiatric problems such as dementia. Huntington’s disease also is a common cause of chorea, which are involuntary writhing movements. It also has the chance to develop heart disease, and pneumonia. The main effect of the mutation of the Huntingtin gene is the mutant protein Htt. This mutant protein tends to be toxic to certain cells, mainly in the striatum of the brain. Htt can also affect other cells in the body, particularly the testes, and can also sometimes be found in the lungs, heart, and liver. There are different pathways in which the mutant Htt causes the death of cells. These pathways that have been identified include, but are not necessarily limited to: the effects of transcription of a gene, impairment of energy production in cells, the toxic buildup of glutamine in nerve cells, affecting caspases and their cell removal processes, and affecting chaperone proteins, which regulates proper folding of proteins.

            There is no cure for Huntington’s disease. Since this disease is neurodegenerative, the effects of the cognitive decline to patients with this disease are too severe to relieve the cognitive symptoms. As the person affected ages, the need for multidisciplinary care giving is essential because of the inability of the affected person to take care of himself. The chorea that is developed from this disease, though, could be treated with Tetrabenazine, neurleptics, and benzodiazapines. The tragedy of this disease will continue to exist until there is a cure, or some type of treatment in order to preserve the cognition of the affected person.