Discuss the role of poly-glutamine (poly-Q) in Huntington’s disease (HD) Introduction: The gene

Huntington’s Disease is a brain disorder affecting movement, cognition, and emotions (Schoenstadt). It is a genetic disorder generally affecting people in their middle 30s and 40s (Sheth). Worldwide, Huntington’s disease (affects between 3-7 per 100,000 people of European ancestry (Schoenstadt). In the United States alone, 1 in every 30,000 people has Huntington’s disease (Genetic Learning Center). Huntington’s Disease is a multi-faceted disease, with a complex inheritance pattern and a wide range of symptoms. There is also much research being done in the field of Huntington’s disease, because as of 2012, this disease is untreatable. THESIS.

Huntington's disease is an inherited neurodegenerative disorder. It is passed on to children from one or both parents (though two parents with Huntington's is extraordinarily rare) in an autosomal dominant manner. This is different from autosomal recessive disorder, which requires two altered genes (one from each parent) to inherit the disorder.

Huntington's Disease is a genetic autosomal disorder which effects the brain. It affects about 1 in 20,000 individuals. The symptoms of the disease do not start to occur until after or around 40 years of age. With the onset of the disease the patient starts to gradually deteriorate intellectually, this deterioration also causes involuntary movements. Scientists have only recently found the section of the gene which causes Huntington's disease, and this is allowed them to devise pre-symptomatic tests. However, a cure for the disease is yet to be found.

Huntington’s disease destroys the organs that carry the functions of the central nervous system. Kalat (2013) states, “Huntington disease (also known as Huntington disease or Huntington’s Chorea) is a severe neurological disorder that strikes about 1 person in 10,000 in the United States” (A.B. Young, 1995, p. 258).Individual’s develop the symptoms in their middle age, but even if it is a rare disorders juveniles as well as children before the age of ten can develop the disease. Huntington’s disease is hereditary disease that is passed on from a parent. Huntington’s disease is of the lack of the chromosome 4, if one of the parents carries the gene, they can pass that gene to their

At present, there is no cure for the disease, but dynamic progress has been made as researchers explore this illness. HD is inherited as an autosomal dominant condition. In March 1993, scientists realized that HD is caused by a mutation in a gene located on chromosome 4. This gene has a unique genetic sequence for CAG (cytosine-adenine-guanine) and codes for the amino acid glutamine, a building block for the huntingtin pr otein. Normal individuals have this sequence duplicated from 11 to 40 times in their genetic coding without having symptoms of HD. However, individuals with the disease have from 40 up to 100 repeated CAG segments. Juvenile Huntington's Disease occurs wit h 60 or more repeats, linking the longer chains of CAG sequences to earlier and more aggressive onset of the disease.

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.

4. “Huntington Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/huntington-disease.

Parkinson's Disease (PD) and Huntington's Disease (HD) are neurodegenerative diseases that are caused by malfunctions within the motor sector of the nervous system. These malfunctions, which are caused either by the surplus (as in HD) or absence (as in PD) of hormones, are a direct result of neural cell deterioration within the brain. PD and HD illustrate two very different behavioral patterns that are subsequently caused by two opposite and extreme biological abnormalities. Yet the common thread between the two conditions is that there are major mechanical predicaments arising between cellular connections within the brain.

Huntington’s disease is caused by a mutation in the gene for a protein called Huntingtin. The genetic mutation results in the building blocks of DNA (cytosine, adenine, and guanine) to be replicated many more times than in an average individual. As a result, Huntington’s disease breaks down brain cells, or neurons, specifically located in the primary motor cortex regions of the brain, but can effect other brain areas

Huntington's disease is an autosomal dominant disorder, which is found on the # 4 chromosome. George Huntington discovered it in 1872. It mainly has an effect on the nervous system. There are around 210,000 bases between D4S180 and D4S127. The disease itself is found in 2% of people in their childhood, and in 5% of the people they were older then 60. (Miller p 16) In the majority of the affected people the disease is detected between the ages of 35-45. In males the disease begins around the time of their childhood. However, in females it begins later in life. This severe symptom has a tendency for the condition to worsen as it is passed on from generation to generation. Huntington’s disease is paternally

Huntington's disease is characterized by atrophy of the caudate nucleus and putamen. There are two populations of GABAergic striatal efferent neurons that are involved and this is evident based on their projection targets and neuropeptide content. In the very early stages of the disease there is a major loss of

The repeats on these triplet base pairs result in an elongated version of the Huntingtin protein, which is unstable and breaks down into smaller, toxic pieces. These small pieces undergo hydrogen bonding and accumulate in neuron cells, therefore impeding their functions. One effect is excitotoxicity, which is when natural brain chemicals are overstimulated. It also results in defective mitochondria, less ATP synthesis, oxidative stress and a decrease in trophic factors. Oxidative stress is when metabolic activity creates toxic chemicals as a byproduct, and trophic factors are compounds that prevent cell death. Other possible effects of the protein pieces binding to neuron cells includes coaggregation p53, the tumor suppressor protein that can cause cell death. These pieces also impede the function of chaperone proteins, or proteins that assist in the foldings of other proteins. Most of this harmful activity takes place in the brain, which is why Huntington’s Disease is considered a neurodegenerative disease. Since all human cells have the entire genome, Huntingtin is apparent in other types of cells, although its effects are not as

Huntington’s Disease is caused by a defective gene inherited from the parents, carried on chromosome 4. It is responsible for making ‘huntingtin’. Basically, it means that certain proteins needed to make brain chemicals are unable to make them in your brain as normal. This leads to damage and the death of some brain cells, called neurons, in the basal ganglia and the cortex, located in the brain. This leads to Huntington disease, and a buildup of dopamine, a chemical that is produced to make you feel good, contributes to the problem.

The Huntington's disease was founded in 1872 by a man named George Huntington. When he discovered the disease, he said it was an inherited disorder. He wrote and published a paper in the Medical and Surgical Reporter of Philadelphia, where the disorder became known as Huntington's Chorea. It wasn’t until 1993 that scientist discovered the gene that caused Huntington's. The discovery of the gene was a huge millstone for Huntington's.

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.