Taking a Look at Huntington's Disease

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.

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

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 (HD) is an autosomal dominant, progressive, neurodegenerative disorder (Walker, 2007 and Harmon, 2007). The gene that causes the disease is located on the fourth chromosome and causes an abnormal number of repeats in the patient's genetic code (Harmon, 2007). Huntington's Disease can have devastating effects on patients' quality of life. The first symptoms of HD generally start between the ages of 30 and 45 and patients are typically asymptomatic prior to this time (Terrenoire, 1992 and Walker, 2007). However, the disease progresses with subtle changes in motor control, personality, and cognition. Patients eventually develop distinct

One disease that can be tested for using these methods is Huntington’s disease, which causes involuntary spasms and contractions and a decline of coordination and cognitive ability (Online Mendelian Inheritance in Man [OMIM], 2014). These symptoms occur as a result of a trinucleotide repeat in the huntingtin gene on chromosome 4p16.3, also known as the HTT gene. The disease is autosomal dominant, with the completeness of its

Cases of Huntington’s disease date back to the early seventeenth century, but those records are basic, with no convincing

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

Huntingtin is a 350-kilodalton protein of unknown function that is mutated in Huntington's disease (HD), a neurodegenerative disorder. The mutant protein is presumed to acquire a toxic gain of function that is detrimental to striatal neurons in the brain. However, loss of a beneficial activity of wild-type huntingtin may also cause the death of striatal neurons. Here we demonstrate that wild-type huntingtin up-regulates transcription of brain-derived neurotrophic factor (BDNF), a pro-survival factor produced by cortical neurons that is necessary for survival of striatal neurons in the brain. We show that this beneficial activity of huntingtin is lost when the protein becomes mutated, resulting in decreased production of cortical BDNF. This

“An Interview with Dr. Nancy Wexler: Discovering the Huntington Disease Gene.” HD Insights, Huntington Study Group, 2012, chrome-extension://ecnphlgnajanjnkcmbpancdjoidceilk/content/web/viewer.html?source=extension_pdfhandler&file=http%3A%2F%2Fhdsa.org%2Fwp-content%2Fuploads%2F2015%2F02%2Fhd-insights-volume-3.pdf. Accessed 15 Dec. 2017.

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 a hereditary brain disorder that affects people all over the world. If your parent has this disease, there is a fifty-percent chance that you will develop it at some point in your life. Huntington’s disease is caused by a defect in the dominate gene called huntingtin. This defect is caused by a part of DNA called CAG repeat. Normally the huntingtin gene is repeated about ten to twenty-eight times, and plays a major role in brain development. When a person has Huntington’s disease the huntingtin disease repeats anywhere from 36 to 120 times. When the gene repeats this much the elongated proteins separate into smaller pieces and collect neutrons, disrupting the normal cell function. This effects the parts of the brain

In 1983 the Huntington disease gene, discovered as 4p, was the first to be mapped to a human chromosome without any prior indication of the gene location; furthermore, ten years later with the pathogenic mutation identified as a CAG-repeat, an ongoing debate for predictive testing of the disease is

A) Huntington’s Disease has been the focus of various research experiments for many years. Thanks to the consistent research that has been done in this field, we have come to learn many things about

The gene IT15 (Interesting Transcript 15) (Zheng et al, 2010) codes for the protein Huntingtin (htt) which contains exon1 (XN1). XN1 is the nucleotide sequence that is within Htt protein. Polyglutamine (poly-Q) is a short protein fragment of more than two amino acids called a peptide that is within XN1. It is the consequences of the expansion in poly-Q that causes Huntington’s Disease (HD). HD is the condition in which the nerves in the brain are affected which effects normal functions.

at the University of Pittsburgh department of Neurological surgery, I held a position on a research team that dealt with the neuropathological mechanisms of Huntington's disease (HD). The focus of my assigned project was to demonstrate a defect in mitochondrial protein import in those cells that expressed the mutant huntingtin protein. The majority of mitochondrial proteins are encoded in the nucleus, translated on cytoplasmic ribosomes, and exported to the mitochondria in premature form carrying a mitochondrial targeting sequence on N-terminal side of protein. These proteins are transported through the mitochondrial subunits TOM (translocase of outer membrane) and TIM (translocase of inner membrane). The data demonstrate that mutant huntingtin fragments directly interact with the TIM subunits and inhibits protein transport into the mitochondria. Based off of these findings it was hypothesized that due to this interaction between mutant HTT and TIM, the level of mitochondrially-targeted proteins will be reduced in mitochondria. My specific role in this project was to execute a comparative proteomic strategy consisting of protein separation, identification, and validation. Separation was performed by 2 Dimensional Gel Electrophoresis (DIGE) and identification by liquid chromatography followed by mass spectrometry