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Huntingtons disease conclusion
Huntingtons disease case study
Huntingtons disease case study
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In Science there are many different types of diseases that have been discovered, some of those diseases have been linked to genetics. One specific genetic disease is Huntington’s disease. Huntington’s disease is a genetically linked disease that is cause by a dominant allele. While Huntington’s disease is genetic, there is concepts behind as to how exactly Huntington’s disease becomes genetically linked to an individual who acquires the disease. Huntington’s disease is a genetic disease that has been deemed fatal because of the nature and side effects of the disease. The disease affects motor, cognitive, and physical abilities of each individual affected by the disease. The disease is ruled a degenerating disease because the lack of motor, cognitive, and physical abilities leads to dementia, and or depression. The disease is classified as a dominant inherited neurodegenerative disease, which is caused by CAG trinucleotide expansion in the exon 1 of the Huntingtin gene (Bissonnette 1). There is multiple numbers of CAG (glutamine) repeats in the Huntingtin gene. Polyglutamine expansions lead to a number of cellular abnormalities (Journal of Neuroscience). The chromosomes during development as a fetus are affected, chromosome four is the chromosome associated with change in the Huntingtin gene. The Huntingtin gene can be passed down from either male or female. The Huntingtin gene is expanded on one of the two chromosome fours. Either the mom or dad can have an expanded chromosome four gene which would be passed down, and looked as dominant. If one parent is affected with one of the two chromosome fours he or she is carrying that will be passed down to the child. About half of the eggs will contain the chromosome with the expanded H... ... middle of paper ... ... cells and causes an abundance of protein in the nuclei of cells. Usually the chromosome affected of someone who has Huntington’s disease is the Chromosome number four. Higher number of repeats of the CAG worse the symptoms and more likely to develop Huntington’s disease, the lower number of repeats the less likely you are to have symptoms and or develop Huntington’s disease. While it is a devastating disease there is research being done to try and slow the progression of this disease and or reduce development of the disease? The Mithramcyin treatment testing conducted on mice shed light on a possibility of probably helping individuals with Huntington’s disease and possibility slowing down degenerating brain function, and or loss of mobility skills. Hopefully in the near future Huntington’s disease will be more under control and help individuals who suffer from it.
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
...2013) chose to only use male mice in order to avoid the female estrus cycle. Using female mice would enhance this study because females certainly differ biologically from males and may therefore experience different effects of Huntington’s. The knowledge gained as a result of these differences may be beneficial in treating Huntington’s in male and female patients.
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...
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...
In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.
Memory plays a significant role in the everyday lives of people of all ages. It allows them to recall information and remember skills that were learned in the past. Memory also organizes past information to help people make current and future decisions. However, imagine forgetting the names of close family members or not having the ability to find your keys every time you want to leave the house. These are some of the struggles that people with Alzheimer’s disease face daily. Alzheimer’s disease was first identified by German neurologist Alois Alzheimer in 1906, and was discovered to have an overpowering effect on explicit memory loss (Gruetzner, 1988). There are two types of Alzheimer’s disease – early onset and late onset. Early onset occurs in patients who are diagnosed before the age of 65 whereas late onset occurs in patients who are diagnosed after the age of 65. In the early stages of Alzheimer’s disease, short-term memory is often lost. As Alzheimer’s disease progresses, problems with long-term memory begin to develop, in addition to short-term memory impairments. Although a lot is known about the symptoms of Alzheimer’s disease, the cause has not been conclusively identified. However, as research continues, new theories about the cause of Alzheimer’s disease are being proposed. This has led to a controversy over whether Alzheimer’s disease is caused by genetics or environmental influences (Gruetzner, 1988).
...hich inherited traits, such as those for genetic disease, can be tracked over generations. Throughout out the course of human development, scientists will continue to find new new ways to help the human race through the discovery of the human gene inside of each of us, its uses, as well as complications, that can help the survival of our species.
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).
Dementia can occur in relation to many different illnesses. Some of the most common of which are Huntington’s Disease,
Huntington’s disease – Is a fatally rare condition that causes the gradual deterioration of the nerve cells in the victim’s brain, typically affecting persons fro...
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
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).
Gene therapy enables patients to survive incurable diseases. In the field of genetic diseases, ADA-SCID, CGD and hemophilia are three main ones. ADA-SCID is known as the bubble boy disease. CGD is related to immune system that would lead to fungal infections which are fatal. Patients with Hemophilia are not able to induce bold bleeding (Gene therapy for diseases, 2011). Gene therapy also has good effects on cancer treatment and neurodegenerative diseases, which include Parkinson’s disease and Huntington’s disease. Viral infections, including influenza, HIV and hepatitis can also be treats by it (Gene therapy for diseases, 2011). According to the Science Daily in 2011, gene therapy now can apply to heart failures and neurologic diseases as well.