Huntington’s disease is a progressive, fatal, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine repeat in the huntingtin protein Huntington’s is a disease that advances very slowly over a lifetime, it is hereditary. HD is a disorder that causes changes in the brain. Which affect mobility, mood and the ability to think clearly. Each year about two thousand people are diagnosed with HD. One thousand fifty people are at risk to get this disease in the United States alone. There is a worldwide occurrence of HD, but the lowest is Japan (Ross, 2011).
What is Huntington’s disease?
Huntington’s disease is a neurodegenerative disorder. This disorder is very similar to other neurodegenerative disorders. HD is caused by a protein that has not been folded correctly. The gene that causes the disease is called huntingtin (HTT), it was founded seventeen years ago. Some information has been discovered since the finding of the gene (Schapira, 2014). Understanding the genetics of
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In some families there is an abnormal copy of the gene and that gets passed to their children. If someone has a parent with Huntington’s disease, then they have a fifty percent chance of having the gene and developing the disease. If the parents don’t have the abnormal HD gene, then they cannot get it and pass it on to their children. Men and woman are equally able to inherit the abnormal gene. It is not more common in woman or men. Once the abnormal gene is in the family it does not skip generations. The gene defect involves extra of one specific chemical code in a small section of chromosome four. The normal huntingtin gene includes seventeen to twenty repetitions of the code. This defect causes forty or more repeats. There is a genetic test to measure the number of repeats in the protein
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
If Nathaniel Wu did not have the allele for Huntington’s disease, he would undeniably be the perfect scientist for the position in the eyes of the IPC. Wu is a 30-year-old microbiologist at one if the best research laboratories worldwide. After a series of interviews, the IPC was convinced his determination was not only factor that qualified him more in comparison to the other candidates; they realized that his potential “[is] likely to result in the type of discoveries for new drugs and treatments,” a goal that has not been reached since Dr. Peters’s incident. Wu is also known as a creative researcher and a hard worker, meaning that hiring him will likely result in a dramatic increase of earnings for the IPC. Considering that Huntington’s disease will most likely deteriorate Wu’s abilities, many may argue that it is not worthwhile to hire Wu; it is foreseen that the symptoms of Huntington’s disease begin to appear as soon as th...
In hereditary CJD, the infected person has inherited an abnormal gene due a family history of the disease or takes a test in which their results are positive for a genetic mutation that is associated with Creutzfeldt-Jakob disease. About 5 to 10 percent of cases of Creutzfeldt - Jakob disease in the United States are hereditary and the United Kingdom has a population in the region of 58 million and there are only a few instances of deaths due to genetic CJD in a year.
Wolf-Hirschhorn syndrome (WHS), first described by Wolf et al[1] and Hirschhorn et al[2], results from the hemizygous deletion of the distal short arm of chromosome 4. Due to the complex and unmarked expression of this disorder, the WHS syndrome is presumed to be a contiguous gene syndrome with an indeterminate number of genes responsible for the phenotype i.e. a multigenic etiology. [3][4]
Huntington’s disease is a genetic neurodegenerative disorder that has a middle-age onset. It is clinically characterized by unwanted movements, behavioral and psychiatric disturbances, and dementia. George Huntington, who first described Huntington’s disease, named it “an insanity which leads to suicide,” (Halpin, 2012). Individuals whom are at-risk or diagnosed with this disease stand in a tough situation in which many decide to commit suicide. There is major controversy on voluntary ways to die with this disease, which include to commit suicide, whether physician-assisted or individually, go under continuous deep sedation, or by euthanasia.
In 1993 a consortium of researchers who worked on the DNA samples from families in the Lake Maracaibo region of Venezuela, an area with a high density of HD and significant consanguinity, reported the successful discovery of the gene responsible for the occurrence of this disease, present in chromosome 4 and named it as IT15 (Interesting transcript #15). IT15 later called as the Huntingtin gene (HTT) [2]. HTT is ~10 kilobases (kb) long and translated into a protein of 3144 amino acids with anticipated molecular mass of 348 kDa. Huntigtin protein is expressed in in human and all mammalian cells, where brain and testis has the highest concentration; liver...
Huntington's disease is a progressive brain disorder that is caused by a single defective gene on chromosome 4 — which is one of the 23 human chromosomes that carry a person’s entire genetic code (alz.org, 2013). This defect is dominant, w...
Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...
This extremely rare disease is caused by a mutation in the LMNA gene. Normally this gene produces a protein called Lamin A. This protein functions as a structural component in the nuclear envelope, and plays an important role in determining the shape of the nucleus. According to Sarkar, mutations that cause Hutchinson-Gilford progeria syndrome result from the defective Lamin A protein. This alteration creates an unstable nuclear envelope there by damaging the nucleus. Cellular instability leads to the process of premature aging
Dementia can occur in relation to many different illnesses. Some of the most common of which are Huntington’s Disease,
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Huntington’s disease is named after George Huntington. This disease genetically is an inherited disorder that damages the mind and nervous system. This may affect actions of the body for example like movement, the ability to reason, awareness, and thinking and judgment. It can also affect their behavior. The word genetic is that the disorder is delivered on by each generation of offspring by special codes called genes(Patient.Co.Uk, 2011). Genes are relocated from a parent to offspring and is held to decide some characteristics of the children (Patient.Co.Uk, 2011).
The reason Huntington's disease is a hereditary disease caused by a single abnormal gene. Doctors considered a dominant disorder chromosome is because only one copy of the gene is defective, inherited from parents. If the parent has a faulty gene, the chance that their children will have disabilities is 50 percent. Because the signs and symptoms often first appear in middle age, some parents may not even know they carry the gene until they have children grow up. If the child does not inherit by the defective gene then they will not pass down the Huntington’s disease for the next
Parkinson’s disease, a chronic, progressive, and neurodegenerative brain disorder affecting body movement, known to have no cure, yet has treatments that will help in managing the disease. This disease is named after James Parkinson, an English physician who described this illness. Approximately one million people in the United States are diagnosed with Parkinson’s disease (What is Parkinson’s, n.d.). This disease is identified to be slow in progression and symptoms of this will only worsen as time goes on. Parkinson’s is the second most common neurodegenerative disease (Simpson, Murray, & Eccles, 2010).
Dementia is an organic brain syndrome which results in global cognitive impairments. Dementia can occur as a result of a variety of neurological diseases. Some of the more well known dementing diseases include Alzheimer's disease (AD), multi-infarct dementia (MID), and Huntington's disease (HD). Throughout this essay the emphasis will be placed on AD (also known as dementia of the Alzheimer's type, and primary degenerative dementia), because statistically it is the most significant dementing disease occurring in over 50% of demented patients (see epidemiology).