Untitled Essay, Research Paper
Huntington’s Background Huntington’s disease is inherited as an autosomal dominant disease that gives rise to progressive, elective (localized) neural cell death associated with choreic movements (uncontrollable movements of the arms, legs, and face) and dementia. It is one of the more common inherited brain disorders. About 25,000 Americans have it and another 60,000 or so will carry the defective gene and will develop the disorder as they age. Physical deterioration occurs over a period of 10 to 20 years, usually beginning in a person’s 30’s or 40’s. The gene is dominant and thus does not skip generations. Having the gene means a 92 percent chance of getting the disease. The disease is associated with increases in the length of a CAG triplet repeat present in a gene called ‘huntington’ located on chromosome 4. The classic signs of Huntington disease are progressive chorea, rigidity, and dementia, frequently associated with seizures. Studies & Research Studies were done to determine if somatic mtDNA (mitochondria DNA) mutations might contribute to the neurodegeneration observed in Huntington’s disease. Part of the research was to analyze cerebral deletion levels in the temporal and frontal lobes. Research hypothesis: HD patients have significantly higher mtDNA deletionlevels than agematched controls in the frontal and temporal lobes of the cortex. To test the hypothesis, the amount of mtDNA deletion in 22 HD patients brains was examined by serial dilution-polymerase chain reaction (PCR) and compared the results with mtDNA deletion levels in 25 aged matched controls. Brain tissues from three cortical regions were taken during an autopsy (from the 22 HD symptomatic HD patients): frontal lobe, temporal lobe and occipital lobe, and putamen. Molecular analyses were performed on genomic DNA isolated from 200 mg of frozen brain regions as described above. The HD diagnosis was confirmed in patients by PCR amplification of the trinucleotide repeat in the IT 15 gene. One group was screened with primers that included polymorphism and the other was screened without the polymorphism. After heating the reaction to 94 degreesC for 4 minutes, 27 cycles of 1 minute at 94 degreesC and 2 minutes at 67 degreesC, tests were performed. The PCR products were settled on 8% polyacrylamide gels. The mtDNA deletion levels were quantitated relative to the total mtDNA levels by the dilution-PCR method. When the percentage of the mtDNA deletion relative to total mtDNA was used as a marker of mtDNA damage, most regions of the brain accrued a very small amount of mtDNA damage before age 75. Cortical regions accrued 1 to 2% deletion levels between ages 80-90, and the putamen accrued up to 12% of this deletion after age 80. The study presented evidence that HD patients have much higher mtDNA deletionlevels than agematched controls in the frontal and temporal lobes of the cortex. Temporal lobe mtDNA deletion levels were 11 fold higher in HD patients than in controls, whereas the frontal lobe deletion levels were fivefold higher in HD patients than in controls. There was no statistically significant difference in the average mtDNA deletion levels between HD patients and controls in the occipital lobe and the putamen. The increase in mtDNA deletion levels found in HD frontal and temporal lobes suggests that HD patients have an increase mtDNA somatic mutation rate. Could the increased rate be from a direct consequence of the expanded trinucleotide repeat of the HD gene, or is it from an indirect consequence? Whatever the origin of the deletion, these observations are consistent with the hypothesis: That the accumulation of somatic mtDNA mutations erodes the energy capacity of the brain, resulting in the neuronal loss and symptoms when energy output declines below tissue expression thresholds. (Neurology, October 95) Treatments Researchers have identified a key protein that causes the advancement of Huntington’s after following up on the discovery two years ago of the gene that causes this disorder. Shortly after the Huntington’s gene was identified, researchers found the protein it produces, a larger than normal molecule they called huntingtin that was unlike any protein previously identified. The question that they did not know was what either the healthy huntingtin protein or its aberrant form does in a cell. Recently, a team from Johns Hopkins University found a second protein called HAP-1, that attaches to the huntingtin molecule only in the brain. The characteristics of this second protein has an interesting feature- it binds much more tightly to defective huntingtin than to the healthy from, and it appears that this tightly bound complex causes damage to brain cells. Researchers are hoping to find simple drugs that can weaken this binding, thereby preventing the disease to progress any further. In other Huntington-related research, scientists have found where huntingtin protein is localized in nerve cells, a step closer to discovering its contribution toward Huntington’s. A French team reported that they have developed an antibody that attaches itself to the defective protein in Huntington’s and four other inherited diseases. This finding may lead to identifying the defects in a variety of others unexplained disorders. The identification of the gene an the huntingtin protein promised to be a major breakthrough in tracing the causes of Huntington’s, but that promise has so far been delayed. The protein of Huntington is unlike any other protein known making it difficult for researchers to guess its role in a healthy cell. However, this has not stopped researchers from trying to find a possible cure for HD. Effects on Society By finding possible drugs to weaken the binding of the HAP-1 protein, researchers can provide society an incredibly sophisticated, but quick and easy wasy to screen for new treatments. One of the biggest arguments for genetic testing, even when there isn’t any cure or treatment to offer the patient, is financial planning. If you know that you’re probably going to be disabled and unable to work before reaching 50, you can plan for it. But what if your income doesn’t allow for it? This demonstrates the importance for continuous research on HD. Overview of the Two Articles Both articles concentrate on HD’s protein causing affect. There is no doubt between the two that HD is an inherited mutation. The Neurology articles explains how HD patients have much higher deletion levels than agematched controls in the frontal and temporal lobes of the cortex, whereas the article from Times Medical Writer focuses on a possible treatment resulting from a finding of a second protein called HAP-1, that binds itself to the huntingtin molecule only in the brain. Both conclude that HD is a mutation that causes damage to brain cells further in a person’s life.
Другие работы по теме:
Untitled Essay Research Paper On vacation this
Untitled Essay, Research Paper On vacation this summer I glanced out the window and sawa beautiful handglider hovering in these pretty mountains.A great looking background surrounded the mountains. About four-hundred feet above the mountain soaredthe handglider. The pilot who appears about five footeleven inches wears a yellow jacket and black snow pants.The handglider hangs with a span of about twenty-ninefeet.
Untitled Essay Research Paper I messed up
Untitled Essay, Research Paper I messed up; I made a mistake, But please, haste do not take. I love you more than any action or words could ever express, Still I find my heart drowning in loneliness.
Untitled Essay Research Paper MATERIAL SAFETY DATA
Untitled Essay, Research Paper MATERIAL SAFETY DATA SHEET WOMEN: A Chemical Analysis ELEMENT: Woman SYMBOL: WO DISCOVERER Adam ATOMIC MASS: Accepted as 118 lbs, known to vary from 110 to 550 lbs. OCCURRENCE: Copious quantities throughout the world. PHYSICAL PROPERTIES: 1. Surface usually covered with a painted film. 2.
Untitled Essay Research Paper I am afraidI
Untitled Essay, Research Paper I am afraid. I am lonely. I want to be at home now. I hate the silence. I hate the circumstances. I want to feel love now. I want to feel passion not emptiness.
Untitled Essay Research Paper In the Heart
Untitled Essay, Research Paper In the Heart of Darkness, it is very easy to forget what is real and what is civilized. The rivets that Marlow talks about, to fix his boat, are very symbolic of his need to become riveted to reality. Marlow feels that he is slipping into savagery from what he sees around him. In the story, The Heart of Darkness, by Joseph Conrad, there is a fine line between civilization and savagery and Marlow needs the rivets to help him find himself in his own soul or where his own reality is.
Untitled Essay Research Paper Animal FarmMr Jones
Untitled Essay, Research Paper Animal FarmMr. Jones owned and managed Manor Farm. He was a bad man who liked to drink. Things on the farm got so bad one night that he fell asleep so drunk that he forgot to lock in the animals. The beasts took advantage of the situation and held a secret meeting. Led by the pigs, they ran the Joneses from their home.The animals of the renamed “Animal Farm” formed a system they called “Animalism.
Untitled Essay Research Paper Being a dental
Untitled Essay, Research Paper Being a dental assistant would be a great job because it has a variety of interesting duties. It has goo hours, pay and benefits. There are always advancement opportunities. Jobs will be available because the dental assistant is needed to help the dentist. Being a dental assistant has many good qualities.
Untitled Essay Research Paper Dear Mr Peace
Untitled Essay, Research Paper Dear Mr. Peace, The Connecticut River also known as by it s Algonquin name Long River is very rich and still useable for transportation. The chemical plant that you are proposing to put on the
Untitled Essay Research Paper Pride and Prejudice
Untitled Essay, Research Paper Pride and Prejudice has two main characters, Elizabeth and Darcy, who at the beginning seem to be disgusted at each other. During the book, their views toward each other seem to change and slowly make progress. At the end of the book, their opinions have completely turned around about each other and they even get engaged and later married.
El Viaje Problematico Essay Research Paper EL
El Viaje Problematico Essay, Research Paper EL VIAJE PROBLEMATICO Mi familia y yo fuimos a Breckenridge, Colorado y tuvimos muchos problemas durante el viaje. Breckenridge es un centro de esqui en Colorado pero los problemas empezo en Huntington, West Virginia.
Me Essay Research Paper SUMMARY
Me Essay, Research Paper SUMMARY Offering over 20 years experience, and a comprehensive background in all areas of office management and accounting. Ability to thoroughly research, and analyze situations and propose creative solutions.
Untitled Essay Research Paper 7 I have
Untitled Essay, Research Paper 7. I have chosen the character Abigail and will show the impact she had on the witch hunt in Salem because of her strong leadership and the accusations she made towards others in Salem.Abby was a very fluensul girl in the play and the other girls looked up to her and would follow along for what ever she told them.
Untitled Essay Research Paper NonHodgkins Lymphoma
Untitled Essay, Research Paper Non-Hodgkin?s Lymphoma Non-Hodgkin?s lymphoma is a disease in which cancer calls are found in the lymphsystem. The lymph system fights infections found in the body. People with AIDStend to pick up this disease. There are no specific early detections for this disease.Every body is different, and this disease is already difficult to diagnose.
Untitled Essay Research Paper In both the
Untitled Essay, Research Paper In both the traditional and not so traditional tales of ?Snow White? and ?Snow White Tale of Terror?despite there many differences, the plots are both based on jealousy. As viewers watch the movies they are dazzled by the mysterious mirror, entranced by the different takes of the story line, and know that there will be a happy ending.
Untitled Essay Research Paper Jonathan Edwards and
Untitled Essay, Research Paper Jonathan Edwards and Patrick Henry?s biographies and speeches showed a lot of similarcharacteristics, but also many differences, Their speeches both contained incredible powerand impact. Yet the effects and results were hardly on the same subject. Jonathan Edwards was a powerful speaker.
Untitled Essay Research Paper Bottlenose DolphinsThe Bottlenose
Untitled Essay, Research Paper Bottlenose Dolphins The Bottlenose Dolphins Live in Fiordland New Zealand. It is a spectacular environment where it snows all winter and sometimes part of the fiord freezes over. The sides of the fiord are like big pillars of rock reaching way out into the sky. The fiord also consists of great number of wild life including Flora, Fauna, Seals, Penguins, Crayfish, and some types of Sharks.
Untitled Essay Research Paper November 6 1996
Untitled Essay, Research Paper November 6, 1996 Dear Joe, It was nice to hear from you again, I enjoyed hearing about your new business venture and I hope it works out. School is going great and I can’t wait to graduate in two months. The other day I finished reading a book by Michael Crichton called “JURASSIC PARK” you may have heard of the movie.
Untitled Essay Research Paper Analysis of Crito
Untitled Essay, Research Paper Analysis of Crito The question is raised within the dialogue between Socrates and Crito concerning civil disobedience. Crito has the desire, the means, and many compelling
Untitled Essay Research Paper Business has always
Untitled Essay, Research Paper Business has always been the major of my choice because of the endless possibilities. You are on your own in a business – but you are also your own boss. And with this comes the privileges. Structure your business to the limits of your imagination. Anything can be sold for the right price.
Untitled Essay Research Paper One day a
Untitled Essay, Research Paper One day, a woman called herself ?Want the Truth in Westport? wrote to a columnist with a question that she had to have the answered. ?Please find out for sure,? she begged the columnist, ?whether or not Oprah Winfrey has had a facelift.? The columnist refused to answer the question for Ms.
Untitled Essay Research Paper Words 361
Untitled Essay, Research Paper Words = 361 At the conclusion of Barn Burning Sarty faces a major dilemma: go back to his family or just walk away. The consequences of this decision are great. For such a young boy, choosing to leave his family must be overwhelming and frightening. However, Sarty knows that in order for him to actually live, he must do this.
Untitled Essay Research Paper In the novel
Untitled Essay, Research Paper In the novel, To Kill A Mockingbird, by Harper Lee, the author comments onlife. Specifically, Harper Lee comments on racism and true courage. Racism is the first subject that the author comments on. It is obviousfrom her writing that she feels racism is that it is wrong. This is displayed inseveral ways.
Untitled Essay Research Paper A hacker is
Untitled Essay, Research Paper A hacker is a person obsessed with computers. At the heart of the obsession is a drive master the computer. The classic hacker was simply a
Untitled Essay Research Paper A Biographical Report
Untitled Essay, Research Paper A Biographical Report on Thomas Fitzsimons Thomas Fitzsimons, or Fitzsimmons as his last name was sometimes spelled, was born during 1741 and died on August 26, 1811. Originally from Ireland,
Untitled Essay Research Paper Hmmmm I havent
Untitled Essay, Research Paper Hmmmm? I haven?t seen that many plays, but I did see this one, so here comes the review. Produced by Andrew Lloyd Webber, Cats is not his most famous production. Webber also did the Phantom of the Opera. I?ve never seen ?Phantom?, but I would imagine it is better than Cats. That?s not to say Cats was particularly bad, just cheesy.
Untitled Essay Research Paper Physics Geosynchronous Orbits
Untitled Essay, Research Paper Physics Geosynchronous Orbits Geosynchronous Orbits + Geostationary Orbits Webster’s dictionary defines a Geostationary orbit as of, relating to, or being a satellite that travels above Earth’s equator from west to east at an altitude of approximately 35,900 kilometers (22,300 miles) and at a speed matching that of Earth’s rotation, thus remaining stationary in relation to Earth. 2.
Untitled Essay Research Paper A Farewell to
Untitled Essay, Research Paper A Farewell to Arms The overall tone of the book is much different than that of The Sun Also Rises. The characters in the book are propelled by outside forces, in this case WWI, where the characters in SAR seemed to have no direction. Frederick’s actions are determined by his position until he deserts the army.
Untitled Essay Research Paper Sand Pebbles essay
Untitled Essay, Research Paper Sand Pebbles essay The movie Sand Pebbles focus was on the flag. The flag was not only a symbol of a nation, but of nationalism, militarism and imperialism. During the 1800’s and early 1900’s there was a severe foreign influence in China. During this time period the European nations wanted to trade with the Chinese, but the Chinese had no interest in the European products for at the time China was self sufficient.
Untitled Essay Research Paper As John Stuart
Untitled Essay, Research Paper As John Stuart Mills, I believe that my philosophy on government will satisfy the needs of the society. Throughout the 1880?s people have revolted under the circumstances that the government is focused on the society and the individual. My system focuses on liberty, meaning the rights and principles of the individual of a society.