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.
Cases of Huntington’s disease date back to the early seventeenth century, but those records are basic, with no convincing
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Every cell within the body contains all of these chromosomes, which have bases arranged to form a code (Appai-Kubi). The four bases, cytosine, adenine, guanine, and thymine, interact to form the fundamental structure of DNA (Appai-Kubi). Huntington’s disease is found on the fourth chromosome and is identified by a sequence known as the “CAG repeat,” (Appai-Kubi). In someone who is not afflicted, the number of “CAG repeats,” ranges from 10 to 28 (Sheth). Typically, more than 35 “CAG repeats,” is associated with Huntington’s disease, however, there are cases with people not afflicted having up to 39 “CAG repeats,” (Appai-Kubi). The number of repeats generally increases as the gene is passed on through families. An increase number of “CAG repeats,” generally means earlier development of symptoms (Sheth). ). Huntington’s disease is inherited through an autosomal dominant pattern; meaning that whoever inherits the faulty gene will definitely develop the disease during their lifetime (Genetic Science Learning Center). A parent with the Huntington’s disease mutation has a 50% chance of passing on the gene for the disease to their children (Genetic Science Learning Center). A small number of cases (1 to 3 percent) occur without family history of Huntington’s disease (Schoenstadt).
Huntington’s disease can be tested for by looking at the number “CAG repeats,” on chromosome 4 (Appai-Kubi.) During pregnancy, a
Every cell within the body contains this entire set of chromosomes, which have bases arranged to form a code (Appai-Kubi). The four bases, cytosine, adenine, guanine, and thymine, interact to form the fundamental structure of DNA (Appai-Kubi). Huntington’s Disease is found on the fourth chromosome, with a sequence known as the “CAG repeat,” (Appai-Kubi). In someone who is not afflicted, the number of CAG repeats ranges from 10 to 28 (Sheth). Typically, more than 35 repetitions of CAG is associated with Huntington’s Disease, however, there are cases with people having up to 39 repeats not having the disease (Appai-Kubi). As the gene is passed on through families, the number of repeats generally increases, and with an increased number of CAG repeats, the earlier the symptoms develop (Sheth). This characteristic of the disease allows it to be tested for, by testing the frequency of CAG on chromosome 4 (Appai-Kubi.) During pregnancy, a woman can test for Huntington’s Disease in two ways; either amniocentesis, taking fluid from around the fetus, or by CVS, taking a sample of fetal cells from the placenta (Genetic Learning Center). A genetic test after birth can confirm the diagnosis after a series of neurological and psychological tests (Genetic Learning Center). Huntington’s Disease is inherited through an autosomal dominant pattern; meaning that whoever inherits the faulty gene will develop the disease throughout their lifetime (Genetic Science Learning
In 1993 it was discovered that a segment of DNA on the arm of chromosome 4 is linked to the HD gene. They found that at one end of the HD gene, the combination CAG is repeated too many times. In people without HD this CAG is repeated 5 to 35 times. In people who are affected by HD, CAG is repeated over and over again between 36 and 121 times.
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
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
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
4. “Huntington Disease - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/huntington-disease.
The official name of the gene responsible for Huntington’s disease is the Huntington gene, symbolically known as HTT. Inaction, the HTT gene is made up of 10 to 35 repeats of nucleobases; cytosine, adenine and guanine. When the sequence reaches a length 36 repeats or higher, a mutated protein, mHtt is produced. Individuals with Huntington’s disease have between 36 and 120 repeats of CAG in the specific gene, however symptoms tend to show in individuals with 40 plus repeats. As Huntington’s is passed from parent to child, the expanded HTT copies often become longer in the process, resulting in an earlier onset of the disease, a situation categorized by the term genetic anticipation.
gene pool has been traced back to the 1800's to a woman named Maria Concepcion.
Rooting back to the middle ages the now commonly known Huntington’s disease is the cause of death in one out of 15000 people around the globe. The disease’s existence is documented through history under many different names depending on the amount of information that was gathered through the unusual progression of the disease. The disease was referred to as Chorea initially due to the jerky movements of the patients affected by it. The first thorough description of the disease surfaced in 1872 as George Huntington whom the disease is named after today presented a detailed definition of the disease through his first paper. George Huntington was able to accurately detect the pattern of inheritance of an autosomal dominant disease by examining the combined medical histories of a family that clearly suffered from the disease through generations. The disease could not be studied further until the rediscovery of the Mendelian Inheritance in the 20th century that allowed scientist to look further into the autosomal dominant disease.
Huntington’s Disease is dominant and autosomal, affecting chromosome 4 on the genome [3,7]. Normal individuals have that specific CAG strand repeated 10-28 times, however, an individual with HD possesses 36-100 repeats [1,3,7].
Huntington’s disease is a rare genetic disorder that slowly kills nerve cells. The cause is the HTT gene in the fourth chromosome, being repeated more times than the healthy gene has. Due to the death of nerve cells, you can get dementia, loss of mental abilities and chorea witch is uncontrollable movements in the arms or other parts of the body. Other symptoms include violent outbursts, seizures, and dystonia or muscle problems like tremors. Also in adolescents having no perseverance and giving up right away.
Medications that have shown an ability to slow the effect of symptomatic onset of Huntington’s disease are currently being tested in clinical trials. One of these medications
Most people who are affected with Huntington’s disease have the same physical type of effects. They usually have very random and jerky motions that they cannot control. They also
Researchers looked the chromosomes of more than 4,000 Huntington's malady patients and found that DNA repair qualities may focus when the neurological manifestations start. Incompletely subsidized by the National Institutes of Health, the outcomes may give a manual for finding new medications for Huntington's ailment and a guide for examining other neurological issue. Huntington's disease is an acquired neurodegenerative issue brought on by transformations in a quality that encodes a protein called Huntingtin. Indications of the disease normally start in your midlife and incorporate uncontrolled developments, enthusiastic aggravations and, in the long run, dementia. Despite the fact that studies in people and creatures have found pieces of
Huntington’s disease, also known as Huntington’s chorea, is a rare pathology among the nervous system. With fewer than 200,000 US cases per year is an inherited condition in which nerve cells in the brain break down over a period of time. This disease will usually start to effect people when they are in their 30s or 40s. Huntington’s usually results in psychiatric symptoms, progressive movement and thinking. No cure to this disease exists but physical therapy, drugs, and talk therapy can help manage symptoms.