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Huntington's disease research paper
Huntington's disease research paper
Huntington's disease research paper
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Huntington's Disease is “a devastating, hereditary, degenerative brain disorder for which there is, at present, no cure... HD slowly diminishes the affected individual's ability to walk, talk and reason. Eventually, the person with HD becomes totally dependent upon others for his or her care” (What is Huntington’s Disease). The “penetrance of the gene [is] close to 100% by old age but is low during the years of reproductive life” (Prediction and Prevention). This disease causes problems in mobility and cognitive ability as well as a few psychiatric disorders.
The first symptoms expressed can be cognitive, mobility, or psychiatric. Many of those affected will experience short-term memory problems. The will often have problems balancing and an unsteady walk. Falling will become more common. They may also experience chorea or involuntary movements as well as dystonia or sustained muscle contractions. Some will have difficulty swallowing. The mental health of people with Huntington’s is also a concern. Many will suffer from depression, OCD, or bipolar disorder. Some may even experience violent outbursts. The age of onset of Huntington’s Disease is usually 30-50 years old; however, juvenile forms are possible, as are later onset. “Individuals with this form of Huntington disease generally survive about 15 to 25 years after onset” (Huntington’s Disease Statistics). Juvenile forms will rarely live into adulthood. Most people do not die from the disease itself, but from additional medical problems like pneumonia and other infections, injuries from falls, and complications due to inability to swallow. As the disease persists, the person will become increasingly dependent on other people for daily care and may become unable to leave their ...
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...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.
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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...
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...
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).
“What Is a Concussion?” What Is a Concussion? | Brain Injury Research Institute, www.protectthebrain.org/Brain-Injury-Research/What-is-a-Concussion-.aspx. Accessed 30 Jan. 2018.
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
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