Huntington's Disease
Huntington's disease, also known as Huntington's chorea is a genetic disorder that usually shows up in someone in their thirties and forties, destroys the mind and body and leads to insanity and death within ten to twenty years. The disease works by degenerating the ganglia (a pair of nerve clusters deep in the brain that controls movement, thought, perception, and memory) and cortex by using energy incorrectly. The brain will starve the neurons (brain cells), and sometimes make them work harder than usual, causing extreme mental stress. The result is jerky, random, uncontrollable, rapid movement such as grimacing of the face, flailing of arms and legs, and other such movement. This is known as chorea. Huntington's chorea is hereditary and is caused by a recently discovered abnormal gene, IT15. IT stands for "interesting transcript" because of the fact that researchers have no idea what the gene does in the body. Huntington's disease is an inherited mutation that produces extra copies of a gene sequence
(IT15) on the short arm of chromosome 4. A genetic base that exists in triplicate, CAG for short, is effected by Huntington's disease. In normal people, the gene has eleven to thirty-four of these, but, in a victim of Huntington's disease the gene exists from anywhere between thirty-five to one-hundred or more.
The gene for the disease is dominant, giving children of victims of Huntington's disease a 50% chance of obtaining the disease.
Several other symptoms of the disease exist other than chorea. High levels of lactic acid have been detected in patients of Huntington's disease as a bi- product of the brain cells working too hard. Also, up to six times above the normal level of an important brain brain protein, bFGF (or basic fibroblast growth factor) in areas of the brain effected by the chorea. This occurs from the problems on chromosome 4, where the gene for control of bFGF is also located.
As of yet, there is no treatment for Huntington's disease. But with the discovery of the mutated genes that cause it, there is now a way of diagnosing if you will get it. This technique was discovered only recently and reported in the Journal of American Medical Association in April, 1993. Something that many people do not want to know. Because it can go two ways. Either you are extremely relieved because the test shows up negative,...
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...d to get her Ph.D. In 1976 she moved to
Washington to become executive director of the Congressional Commission for the control of Huntington's disease and it's Consequences. Once there, they discovered that Huntington's disease works by distroying the Ganglia. Then they decided that the best way to research Huntington's disease was at the level of the gene. They decided to loook for a "marker" (small identifiable piece of DNA) of where the faulty gene is located. This normally would yave taken 50 to 75 years to find. But, on a freak chance, they found it. it was the 12th marker that they tested. The discovery of the marker led to the discovery of the gene which won Wexler the Albert Lasker Public Service Award. The highest honor in
American medicine. She also developed a test to accurately determine whether or not someone will get Huntington's disease.
Wexler will not reveal if she, herself has taken the test because she does a multitude of genetic counciling, and does not want to sway her patients' decisions on whether or not to take the test. But, whether she tests positive or negative, Huntington's disease will live on. Unless scientists like Wexler can find a cure.
It helps medics to find a direct genetic cause of the patient’s condition and target it with pharmaceutical or other therapies. The technology is used for the identification of DNA sequences that increase risks of current diseases and disorders; with this information carriers can start to make efforts to prevent them before the development of the problem. The video mentioned 200 actionable genes, structures that have direct links with a specific condition. Knowing about their presence, people have a chance to bring in preventive measures like taking anticoagulants in the case of identification of a thrombogenic gene. The technology led to the significant improvement of diagnostics and personalized treatments. It helped to find a rare, life-threatening mutation in case of Beery twins and assign a drug to a girl (Alexis) that returned her to a normal life. In the case of cancer genome sequencing led to the development of genetic drags, which target essential tumor genes and make malign structures to shrink. The video mentioned a product that works with the BRАF protein that induces cells to uncontrolled division; the drug led to the remission in the patient with metastasizing melanoma. Such treatment was effective in the case of cystic fibrosis. In the case of the breast cancer the technology helps to evaluate the aggressiveness of the condition and make a personalized decision about chemotherapy. The video also mentioned the pre-implantation genetic diagnosis – an early-staged technology that prevents the development of inherited disorders in
Upon completion of the experiment we were able to examine the DNA. First, the electrophorese
Effects of medical problems e.g. results of strokes, Parkinson’s disease; effects of physiological changes e.g.constriction of cerebral circulation; degenerationof brain cells; aphasia,agnosia; mental health issues; inappropriate responses from others;fear of abuse.
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
we do know is that it is caused by a change in the nervous system, where large levels of stress
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
performance that involves, but is not limited to, a loss in at least 2 of the
...hich inherited traits, such as those for genetic disease, can be tracked over generations. Throughout out the course of human development, scientists will continue to find new new ways to help the human race through the discovery of the human gene inside of each of us, its uses, as well as complications, that can help the survival of our species.
Huntington’s disease is named after George Huntington. This disease genetically is an inherited disorder that damages the mind and nervous system. This may affect actions of the body for example like movement, the ability to reason, awareness, and thinking and judgment. It can also affect their behavior. The word genetic is that the disorder is delivered on by each generation of offspring by special codes called genes(Patient.Co.Uk, 2011). Genes are relocated from a parent to offspring and is held to decide some characteristics of the children (Patient.Co.Uk, 2011).
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Emotional Intelligence, also known as ‘EI’, is defined as the ability to recognize, authoritize and evaluate emotions. The ability to control and express our own emotions is very important but so is our ability to understand, interpret and respond to the emotions of others. To be emotionally intelligent one must be able to perceive emotions, reason with emotions, understand emotions and manage emotions.
Coughlin, S. S. (2002). Future challenges for research on diagnostic tests: genetic tests and disease prevention. Journal of Epidemiology & Community Health, 56(5), 335-336. doi:10.1136/jech.56.5.335
Parents now have the possibility of testing genes for mutations and genetic problems (BBC News).
It is the idea that the mind and body are not separate entities. Rather, they are intricately connected, interacting with each other in many ways. The body's three main regulatory systems are the central nervous system (which includes the brain), the endocrine system (which produces hormones), and the immune system. These three systems work together and affect one another. Researchers who study the mind-body connection examine these interactions, and are particularly interested in the effects of emotions and thoughts on physical health.
Emotional intelligence has a large amount of number, which in common with social intelligence. Both of them are relevant with perception and understanding of other’s emotion, oneself and act cleverly way in interpersonal relationships. They are mood driver, a neurological and biological state of mind which are the significant key for human relationship, furthermore they are overlapping, interdependent and multidimensional. Additionally, found that most successful people seem to behave wiser in socially and emotionally, for instance, in the workplace and close relationships (Kang,Day, & Meara, 2005). However, each of them contains and focuses on different elements. According to