The Pathophysiology Of Huntington's Disease

The genetic disorder is caused by a mutation in the DNA segment CAG found in chromosome 4 which results nerve cell death. Phenotypic characteristics include gradual motor dysfunction, psychological issues that correlate to degeneration of metal health, and cognitive degeneration. Studies on transgenic mice have allowed a better understanding of the proteins that relate to Huntington’s

The CAG combination codes for a protein called huntingtin. Why the increase number of CAG causes HD is still unknown. It is thought that too much of the HD protein makes them obtain some new, abnormal property. This is true in two

Huntington’s disease begins affecting the organs, it destroys the function of the multiple roles of the nervous system and the brain cells. The disease causes advanced deterioration and loss of brain cells, and contributes to a devastating loss of motor functions followed by advanced cognitive and intellectual impairment.

Huntington’s disease is an autosomal, dominant inherited disorder caused by a polyglutamine expansion at the amino-terminal on the huntingtin protein. It causes a progressive degeneration of spiny nerve cells in the striatum and cortex of the brain, impairing a person’s functional and cognitive abilities. Polyglutamine repeats of 36 are found to be non-threating but sequences containing an additional two or three repeats are associated with Huntington’s disease.

Huntington’s disease is a degenerative neurological disorder affecting movement, cognition, and emotional state (Schoenstadt). There are two forms of Huntington’s disease (Sheth). The most common is adult-onset Huntington’s disease, with persons usually developing symptoms in their middle 30s and 40s (Sheth). There is an early onset form of Huntington’s disease, beginning in childhood or adolescence, and makes up a small percentage of the Huntington’s population (Sheth). Huntington’s disease is a genetic disorder with a short history, a plethora of symptoms, and devastating consequences, with no current cure in sight.

Huntington’s disease is a progressive neurodegenerative disease that causes uncontrolled physical movements and mental deterioration. Huntington’s destroys the brain leading to changes in personality and even cognitive functioning. A faulty gene is responsible for this disease. This faulty gene generates a malformed protein which is accountable for the immediate damage. This damage leads to a slow decline and eventually death. Unfortunately there is no cure and only minor treatments to manage

Huntington’s chorea, or more commonly known as Huntington’s disease (HD), is a neurodegenerative disorder that affects both men and women. Although previously thought to be a relatively rare disease, new research discoveries show that it’s actually more common than not; while the onset of symptoms typically occurs in a person’s 40s and 50s, research has also shown that individuals in their 70s, 80s and even 90s have enough repeats in the HTT gene to develop mild HD symptoms. (Samson, 2016) Through the selective degeneration of neurons and with the loss of neurons from the striatum and cerebral cortex, Huntington’s disease affects the nervous system by impacting movement, cognitive abilities, as well as neuropsychiatric symptoms. Unfortunately

Furthermore, the disease is caused by an HTT gene that has a mutation. The gene supplies instruction for the protein. However, the function of the detrimental disease is currently unknown, but it creates life changing effects on people’s neurons and nervous systems that are found in the brain. The gene,

Sir William Osler showed interest in the Huntington disease and was completely astonished with the Huntington disease paper that he read. With his knowledge and persistence in the medical field, Osler contributed in spreading the awareness of the disorder throughout the medical community. Another biologist, Cahrales Dvenport, who had his desire fueled by Jelliffe’s research in the disorder, provided outstanding contributions in exploring the disease. One of them is detecting the mode of inheritance and the variability, such as the age of onset of the disease. The research community has further investigated the disorder for decades. In 1983, the Venezuelan collaborative research project estimated the location of the HD gene using genetic linkage analysis. It was the first autosomal dominant gene to be discovered using this particular method and found that the gene is situated at 4p16.3.

Huntington’s disease is caused by genetic mutation. The mutation occurs on the HTT gene; the HTT gene contains the DNA used to code for a protein called Huntingtin. The HTT gene is located on the shorter arm of the 4th chromosome. The protein, Huntingtin, is primarily used in neurons in the brain and is also found throughout the body.

HD is only one of a few trinucleotide rehash disarranges which are initiated by the

2005). This is significant because the location of the gene could have different effects on the mitochondria and the neuron itself. The experiment used Western blotting as the main method of completing the study, and used mice as subjects (in vitro and in vivo experiments). The findings were that SOD1 localizes more in the brain mitochondria than in the liver, and the SOD1 are inside and on the surface of the mitochondria in the spinal cord (Vijayvergiya et al. 2005). The results suggest that damage to mitochondria may trigger the start of amyotrophic lateral sclerosis, and this study could provide an insight to the specificity of neuron degeneration. With the fact that SOD1 was more in the brain and spinal cord than anywhere else, the central nervous system is affected and the activities of the body are at risk. This analysis intended to discover where mutant SOD1 combines in the mitochondria of the brain and spinal cord, and how this might contribute to selective neuron death (Vijayvergiya et al.

From the effectiveness of the application of antisense oligonucleotides in other disease of a similar pathology, it stands to reason that ASOs should be a viable therapeutic for treating Huntington’s disease.

The aim of this project is to discuss the various components that shape Huntington’s disease. The efficiency of this paper will depend heavily on a brief but, comprehensive examination of past and future research that may offer plausible suggestions and explanations to the following four subtopics; the history of Huntington’s disease, anticipation and genetic markers of Huntington’s disease, symptoms and treatment of Huntington’s disease and finally living with Huntington’s disease. This research paper will focus namely on the above stated categories but, will not be restricted to comprise only of the mentioned fields.

To identify dysregulated proteins in MPS VII mice compared to wildtype mice (n=3 each group, 5-month old), brains were collected and subjected to 2D-PAGE combined with nanoLC-MS/MS. From the 2D PAGE gels, a total of 2,055 spots were compared (Figure 1). Spots that had a fold-change >1.5 and a p-value <0.05 between MPS VII and control mice were deemed significant and subjected to in-gel trypic digestion. NanoLC-MS/MS analysis of the differentially expressed spots led to the identification of 43 individual proteins that were either upregulated or downregulated in MPS VII (Table 1). These proteins were identified by submitting the