Huntington's Disease: The First Awesome Genetic 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.

Huntington's disease is caused by a faulty gene. They are made up of DNA and packed onto strands called chromosomes. We have two copies of all our genes, so our chromosomes are in pairs. We have forty six chromosome’s which is twenty three pairs. The faulty gene that causes Huntington's disease is found on chromosome number four. The normal gene produces a protein called huntingtin but the faulty gene contains an abnormal area of what are called CAG repeats. This area is larger than normal and it produces a mutant form of the protein huntingtin. Cells in certain parts of the brain especially the basal ganglia and parts of the cortex are sensitive to the effects of the abnormal huntingtin therefore this makes them function poorly and eventually

George Huntington was not the first to describe the disease, but he was the first to present an account in concise clear detail. After Huntington’s research, the disease was known as Huntington chorea. Chorea meaning sporadic, involuntary movements. As time has progressed, research has as well, and this disease has come to be known as Huntington’s disease (HD). Huntington’s is a neurodegenerative disorder that is autosomal dominant, meaning the defective gene needs only be inherited from one parent. The cause of HD is a defect that occurs on chromosome 4 and as mentioned above is hereditary. This disease affects the cognitive, motor and emotional functions of the brain. Oliver Quarrell put in simpler terms the actions of the brain cells in a book he wrote stating the known facts of Huntington’s disease. Quarrell (1999) described a person with this disease to have, “some nerve cells, in specific areas of the brain, die back early” (p.2). The action of cells dying prematurely leads to two forms of Huntington’s; Adult

Huntington’s disease (HD) is a neurodegenerative disease that affects roughly 10 individuals per 100,000 (Nopoulus, 2016). This disorder is normally associated with symptoms including motor impairment, namely slowed movements and random muscle contractions, as well as depression and cognitive dysfunction. However, another prominent symptom that has yet to be mentioned until recently is sleep disturbance and alteration of normal circadian rhythms. It is estimated that 60-90% of HD patients have sleep issues and that nearly 60% see those issues as being factors in their overall problems (Goodman et al., 2010). Despite the minimal volume of studies, the overwhelming proportion of HD patients who are afflicted with circadian dysfunction and

If Melissa’s mother is Huntington’s disease positive heterozygous and her father is Huntington’s disease positive homozygous if this is the case 100% chance Melissa will be Huntington’s disease positive.

Huntington’s Disease (HD) is defined as being a progressive neurodegenerative condition which can be characterized by cognitive, motor and behavioral problems (Mestre, Ferreira, Coelho, Sampaio, & Costa, 2009). It is an autosomal dominant disease, meaning that if a child’s parent is affected by HD, there is a 50% chance the child will be affected as well. Huntington’s disease (first known as Huntington’s Chorea) was first documented and studied in 1872 by George Huntingon, MD (Aubeeluck & Wilson, 2008, p. 146; Bourne, Clayton, Murch, & Grant, 2006). Almost 150 years later there is still little known about this disease, which contains no cure in sight.

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.

The first of the Five Arnold Requirements which states: The encroacher did not simply take a calculated risk, act in bad faith, or negligently, willfully or indifferently locate the encroaching structure. This requirement was met due to the fact that the Huntington’s and the Proctor’s relied on a survey that was done of the property. The survey was completed by Dennis Peoples in 1995. Mr. Peoples placed a pin along the northern border of the Proctor’s property. This pin was not intended to mark the actual boundary of the properties. This pin was referred to as the 16th pin. Based on this information, it obvious that the Huntington’s were not negligible in this instance. They had relied on the information from the surveyor. The Huntington’s

Huntington’s disease is an autosomal dominant disorder in which cells of the brain deteriorate and eventually die. The disease does not currently have a cure. Currently, there are researchers studying the effects of mutations and possible ways to silence them. Antisense therapy provides a form of treatment for genetic disorders or infections. If a certain genetic sequence is known to cause a particular disease, the nucleic strand can be synthesized to bind to the messenger RNA (mRNA) produced to the gene to inactivate and thus silence the gene. Upon the expansion of the CAG tract in the huntingtin gene (HTT), a toxic huntingtin protein (HTT) forms with an elongated polyglutamine tract. Wild-type HTT is quite critical during the during early

Even in my earliest memories of my uncle, Dennis Inman, I cannot recall him ever being still. Dennis had a genetic disorder called Huntington’s Disease, which robbed him of his ability to control his muscle movements. Over the course of my life, I have witnessed him progress from a muscle tic to violent convulsions that wracked his body. For years, my greatest wish in this world was for my uncle to be still, even if it was just for one moment. The day before Christmas Eve of 2016 I got my wish.

To investigate the proteolytic cleavage of the mutant HD in the brain, the researchers determined the proteolytic cleavage products of the mutant HD. This was done by identifying the size of HD in the diseased tissue and evaluated HD from an affected region, i.e. caudate and putamen, of the human brain. The aggregation state of the HD-containing complex was measured using gel filtration while the size was measured by SDS-PAGE followed by antibody d

To investigate the proteolytic cleavage of the mutant HD in the brain, the researchers determined the proteolytic cleavage products of the mutant HD. This was done by identifying the size of HD in the diseased tissue and evaluated HD from an affected region, i.e. caudate and putamen, of the human brain. The aggregation state of the HD-containing complex was measured using gel filtration while the size was measured by SDS-PAGE followed by antibody

Huntington’s disease (HD) is an inherited disease that leads to the breakdown of nerve cells in the brain. HD affects a person both physically and mentally. Some symptoms include personality change, depression, forgetfulness, unsteady gait, involuntary jerking, slurred speech, and difficulty in swallowing. HD is considered a late on set disorder, because people don’t show symptoms until their 30’s or 40’s (Mayo Clinic Staff, 2014). HD progressively gets worse and worse and has 3 different stages. The early stage of HD includes changes in coordination, involuntary movements, difficulty thinking through situations, and a depressed mood. In the middle stage of HD, the person will struggle more moving, thinking and reasoning will go down hill quickly and problems talking and swallowing will become worse. The late stage of HD is when it really gets bad, the person becomes fully reliant on someone else and choking becomes a major issue. The person will not be able to speak or walk in the late stage. Medications can be taken to help manage symptoms, but treatments can’t stop the mental and physical breakdown of the person. Speech therapy can help with speech and swallowing and occupational therapy can be helpful in learning to deal with movement issues. Exercise is also very helpful (Huntington’s Disease Society of America, n.d).

In 1972, George Huntington described an illness “Huntington’s Chorea” from the Greek work “Chorea” meaning dancing which is commonly refers to as Huntington Disease (HD) today. The movement made by the Huntington disease patients seems like a jerky dancing therefore it was refers as Huntington’s chorea (HC) 1 in every 10,000 people in United State of America (U.S.A.) suffers from hunting affecting male and female of all ethnicity and race equally but risk are higher for person’s in thirties or forties.. That approximately 30,000 people in the U.S.A., while more than 150,000 are at 50% risk of developing HD. HD is an inherited neurological, degenerative brain disorder which results in physical, mental, and emotional changes that affect

period of 10 to 20 years, usually beginning in a person's 30's or 40's. The gene