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Huntington’s chorea (a disorder of the central nervous system)
Huntington's disease case study assignment
Huntington's disease case study assignment
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MUTANT HUNTINGTIN PROTEIN AGGREGATION AND PROTEASOMAL DISFUNCTION AN INSILICO STUDY 1. INTRODUCTION 1.1 Huntingtons Disease Huntington’s disease (HD) is a progressive autosomal dominant neurodegenerative genetic disorder. HD was originally named Huntington’s chorea after Dr.George Huntington, an American physician who first gave a detailed note on the symptoms and course of the disease in 1872.Recently the name has been changed to Huntington’s disease to emphasize the fact that chorea is not the only important manifestation of the disease but several non-motor symptoms are also associated with this disease.[1] 1 in 1000 to 1 in 10,000 peoples around the world and, 4-10 per 100000 in the western countries are affected with HD. The average age of onset is 40 years and disease progresses over 15-20 years. The earliest symptoms include general lack of co-ordination, uncontrollable jerky movements called chorea and slow saccadic eye movements. As the disease progresses cognitive abilities are declined and finally leading to dementia along with behavioural and psychiatric problems [3] 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... ... middle of paper ... ...xpressed in diseased neurons. Hence the increased aggregation leads to the further deterioration in UPS function. The abrupt loss of neuronal function that is characterized in the progression of many neurodegenerative diseases including huntingtons disease can be explained by this positive feedback mechanism. OBJECTIVE OF THE STUDY 1. Modelling the mHTT structure containing beta hairpins 2. Modelling the beta subunit of 20S proteasome 3. Perform the docking studies of proteasome with normal huntingtin protein, mutated huntingtin protein as well as mutated huntingtin oligomer 4. compare the basic interactions present in proteasome-HTT, proteasome-mHTT, and proteasome-mHTT oligomer complexes Henceforth we could possibly answer how the mHTT escapes the proteasome from degradation and how the oligomeric form of escaped mHTT impairs the Proteasomal function.
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
Huntington’s disease is of great concern because it is a genetic disease that affects many people worldwide. Huntington’s is described by Wider and Luthi-Carter (2006) as the most prevalent inherited neurodegenerative disorder in humans, affecting between two to eight per 100,000 inhabitants of Western countries. Huntington’s also has a slow onset with an average age of onset around 40 (Wider & Luthi-Carter, 2006). Wider and Luthi-Carter (2006) note the cause of this disease to be a mutation in the huntingtin gene, which can be characterized by distinct symptoms. Chorea, from the Greek “to dance”, is the main distinguishing feature of this mutation and is described by Wider and Luthi-Carter (2006) as rapid involuntary movements that manifest as eyelid elevation, head bobbing, facial grimacing, and jerking of the limbs. Chorea is also noticeable in the way one walks, making an individual move in a zigzag pattern and appear to be thrown off balance by involuntary movements (Wider & Luthi-Carter, 2006). The disease duration is between ten and thirty years and is often first noticed in the early stages by symptoms including attention disorders, personality changes, and alterations in motor control (Wider & Luthi-Carter, 2006).
Many people, like myself, after watching an episode of “The Michael Jay Fox Show,” started to be come curious as to what exactly this disease is. You ask yourself; What is this disease? What causes it? Can it be passed down from generation to generation? Is there a treatment? What would your life be like suffering from this? Through my research on Parkinson’s disease, I am determined to answer these questions. I hope to have a better understanding on this disease, and how it affects the lives of patients that I might see in a hospital.
Hypokinetic Dysarthria is a motor speech disorder that is often associated with Parkinson’s disease (PD). It can occur when there is interference in the basal ganglia control circuit. These disruptions can include “degenerative, vascular, traumatic, infectious, inflammatory, neoplastic, and toxic-metabolic diseases (Duffy, 2013, p. 176).” Damage to the basal ganglia control circuit results in reduced range of motion as well as the inability to inhibit involuntary movements. Hypokinetic dysarthria is most commonly caused by PD; a progressive, neurogenic disease that is characterized by tremor, rigidity, slowness of movement, and incoordination. Eighty-seven percent of hypokinetic dysarthria cases are associated with degenerative disease (Duffy, 2013).
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]
The symptoms of Huntington’s disease increase slowly and last until death. Chorea is one of
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...
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
Nurse’s play a very important role in the delivery of care to an older person and in complex disease such as Parkinson’s disease, the care provided by a nurse is vital for both the patient and the family of the affected person. The aim of this essay is to understand briefly about Parkinson’s disease and associated issues and the role of the nurse in the management of the condition.
Dementia is a significant health issue in Australia (Australian Institute of Health and Welfare 2012) (AIHW 2012). Whilst Dementia primarily affects older members of the community, it can also affect young people and has a significant influence on overall health and quality of life (AIHW 2012). The type of Dementia is a determinant in the severity and development of symptoms in individuals (Department of Health 2013) (DoH, 2013). The gradual, progressive and irreversible nature of Dementia has a considerable social and physical impact not only on the individual, but also on family and friends.
The cause of this is caused by a defect on chromosome 4. This gene is in control for building proteins called huntingtin. Chromosome is a construction of nucleic acids and protein. It brings genetic information in the form of genes. The defect on the gene defines that specific proteins are required to make brain substances that can’t be prepared in the brain normally. This is also the result to the harm and loss of brain cells and some portions of the brain. Also there a collection of chemical called dopamine. This also causes movement problems. This damage this leads to the symptoms to the disorder known as Huntington’s disease. (Patient.Co.Uk, 2011).
For this experiment they wanted to exam how Huntington diseased muscle affects the contraction control in the membrane. They first measured the action potentials in the diseased mice and compared that to the wild type mice. In the R6/2 mice they noticed a significant lengthening (almost double) in the repolarization phase that was not present in the wild type mice. The fibers of the diseased mice were also more sensitive to current stimulation that was needed to produce an action potential versus the control mice. A spontaneous action potential occurred in the diseased mice as well after the depolarization. They hypothesized that the repolarization, hyperexcitability, and spontaneous action
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
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).