Topic > A Closer Look at Huntington's Disease - 971

“Huntington's disease (HD) is the result of a genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain” (NINDS). The condition is named after George Huntington, the medical discoverer who first discovered and defined it in the late 1800s. The faulty genetic code shows a blueprint for a protein called Huntingtin (Huntington's disease). The role of this protein is not yet known, but doctors call it "huntingtin" because they link it as a defective form to the cause of Huntington's disease. The defective Huntingtin protein leads to changes in the functional process of the brain, this genetic abnormality which is caused by a defect in the gene on chromosome 4. The imperfection causes a part of the DNA, called the “CAG trinucleotide repeat”, to repeat more times than normal. This section of DNA would normally repeat ten to twenty-eight times. Carriers of Huntington's disease, however, show that this is repeated thirty-six to one hundred and twenty times” (ADAM Medical Encyclopedia). Those with Huntington's disease will develop spontaneous jerking or jerking movements identified as chorea (Huntington's disease. 2014.). The degeneration of these cells causes uncontrollable actions, loss of rational abilities and emotional disorders. Huntington's disease is hereditary, meaning it is passed from the host parent (father or mother) to the child through a mutation in a gene. Every child with parents affected by Huntington's disease has a 50% chance of receiving the Huntington's disease gene (NINDS). Children who do not inherit the gene will not develop the mutation and will not pass it on to subsequent generations. Children born who inherit the Huntington's disease gene mutation will eventually develop the disease... middle of paper... Huntington's disease. Retrieved May 23, 2014, from http://www.ncbi.nlm.nih.gov/pubmedhealth Huntington's disease. (April 20, 2014). - Reference for the house of genetics. Retrieved May 23, 2014, from http://ghr.nlm.nih.gov/condition/huntington-disease Huntington's disease. (n.d.). Alzheimer's disease and dementia. Retrieved May 23, 2014, from http://www.alz.org/dementia/huntingtons-disease-symptoms.asp Huntington's disease research at Johns Hopkins Hospital. (n.d.). Huntington's disease research at Johns Hopkins Hospital. Retrieved May 25, 2014, from Huntington's disease information page. (n.d.). Huntington's disease information page: National Institute of Neurological Disorders and Stroke (NINDS). Retrieved May 22, 2014, from http://www.ninds.nih.gov/disorders/huntington