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Example research essay topic: Genetic Disorder Heart Muscle - 1,543 words

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Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner's Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old.

A twenty year old with Werner's Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because of the scarcity of people with this disorder, not to mention the short life period that they have. The gene for Hutchinson-Gilford Progeria Syndrome was discovered quite recently on April 16, 2003. Researchers confirmed that the gene, HGPS, is not an inherited disorder because neither parent carries or express the mutation. The mutations to the gene LMNA, which encodes for the Lamin-A protein, causes Progeria. The Lamin-A protein is what provides the framework that holds the nucleus together.

Researchers believe that an unstable nucleus caused by a faulty Lamin-A protein brings about Progeria. This gene is located in chromosome 1, but the exact locus has not been announced yet. Researchers say that Progeria is point autosomal point mutation. This misspelling among 25, 000 base pairs causes the shortage of the protein made by Lamin-A. This is also a dominant mutation because it is expressed equally in girls and boys. As in other dominant gene mutations, there is a paternal age effect, meaning that the mother is, on the average, four or five years younger than the father at the time of conception.

The symptoms of a child with the HGPS gene are very noticeable. Although they appear normal at birth, their age begins to accelerate by they time they are 18 to 24 months old. Bones soften and become more fragile, and the even the skin takes the appearance of the very old because it becomes thinner. If the bones break, they usually do not heal properly. Children with Progeria often have a crinkled and bearlike nose, and fat under the skin is nonexistent to them. The muscles becoming flaccid, hips being dislocated, and joints stiffing are also some of the main symptoms of a progeria.

Death of a heart muscle heart, brief attacks of chest pain because of scarce oxygen supply to the heart muscle, and heart failures are not uncommon. They usually have cloudy corneas and possibly blue sclera, which is when the white portion of the eyeball is blue. Most children infected with this disorder are bald by the time they are four years old and usually dont grow any taller than three feet. They also typically weigh between 30 to 35 pounds. Not only does the appearance age, but also the organs experience the accelerated rate of aging. The spleen is usually enlarged.

A child with Progeria will never reach puberty. Children with Progeria usually dont die by old age. Instead, they usually die at the average age of 13 from a cardiovascular disease, arteriosclerosis of some other disease that usually affects the very old. Once called the leprechauns disease, Hutchinson-Gilford Progeria Syndrome was first described in 1886 by the English surgeon Jonathan Hutchinson and by Hastings Gilford in 1904. The main reason why it took so long to find the gene for Childhood Progeria is that it only affects about one baby in every four million to eight million in the world. This is about equivalent to one baby with the disorder being born each year in the United States.

Since this disorder was discovered over a century ago, only a little over a hundred cases have been reported, but they were hard to study from because of the lack of technology. The Progeria Research Foundation is the single organization that exclusively supports the research in discovering the gene for Progeria and its treatments and cures. It is believed that understanding this disorder could lead to a greater understanding of aging and cardiovascular diseases. Therefore, this research foundation initiates many fundraisers and activities to encourage a better knowledge of Progeria. Very few children with Progeria had lived past the age of 20. The chromosome that Werner's Syndrome is located in was discovered in 1992.

On April 12, 1996, the locus was discovered to be in 8 p 11 -p 12. The gene responsible for this autosomal recessive disorder encodes for a 140 amino acid protein that was previously unknown. This protein is part of the Rec Q class of helicase's. These helicase's are similar to that of which unwinds DNA during DNA synthesis. However, its relation to Werner's Syndrome is unknown.

The helicase enzymes are believed to not be necessary for life. However, it may guarantee a long healthy life. This belief leads to two theories. One is that it could be involved with DNA replication. However, this is unlikely because it could be lethal. The second theory is that it could be involved in DNA repair.

DNA repair is the process in which mutations are removed from the DNA. This second theory is more liable than the first one after various tests were conducted. Even though people with Werner's Syndrome can undergo DNA repair, their DNA experience mutations at a much more rapid pace than people without the WRN gene because of their acceleration in aging. The WRN gene has been reported to be located in the nucleolus. There are four types of mutations that give rise to Werner's Syndrome. Two of them are spliced-junction mutations, leading to exclusion of exons in the mRNA.

A truncated protein is caused by a frameshift mutation. The other is called a nonsense mutation. This is a type of point mutation which alters a codon into a nonsense. For example, the one of the stop codons (UAA, UAG or UGA) would be altered and this will result in a premature termination of synthesis of the polypeptide. The symptoms of Werner's Syndrome are very similar to Childhood Progeria. The body begins to rapidly age at the time of adolescence or early adulthood.

The features that begin to develop during adulthood include having a short stature, which is caused by a short, stocky trunk; wrinkled skin; cataracts; muscular atrophy; and baldness; among others. Werner's Syndrome usually results in the appearance of old age by the time the person is 30 to 40 years old. The average span of life is 46 years. For some strange reason, Werner's Syndrome is more common in Japan and Sardinia than elsewhere.

About a 1000 cases have been reported, 800 of them were from Japan. There are many disorders that usually are inherited along with WRN. This includes scleroderma, which infects internal organs and the skin; arteriosclerosis, which is when the walls of the arteries harden and thicken, making the blood vessels more narrow, decreasing the blood flow; diabetes mellitus, a form of diabetes; and endocrine disorders, which causes unusual cancers, such as thyroid carcinoma. Cataract disorders and Retinal disorders are also common to those with WRN. What is unusual is that people with this disorder isnt affected by Alzheimers diseases or hypertension, which are two of the most common diseases in old people. Death usually comes when they are between 30 to 40 years old and is caused by tumors, which is usually the result in having a nonsense mutation.

In 1904 general practitioner, Otto Werner, was the first to describe Werner's Syndrome. Werner's Syndrome occurs in 1 in 100, 000 and 1 in 1, 000, 000 people. Therefore, at the current time, there are about 30 to 40 known cases. According to the Progeria Research Foundation, causes, in this decade, have been reported in Algeria, Australia, Austria, Canada, Chile, China, Egypt, England, France, Germany, Holland, Libya, Mexico, The Netherlands, Puerto Rico, South Africa, South America, Switzerland, Turkey, the United States, Venezuela, and Vietnam. What has also been noticed of those with Progeria, is that the progeria are born with abnormally short telomeres, which are caps of the chromosomes. By they time they turn five, these are as long as a very elderly person.

Telomeres reach a certain point of division before they began shortening, making the person old. Currently, there are no cures for this genetic disorder. Dr. Francis Collin who is the head of the National Human genome Research Institute said that the the next step is to find a drug that corrects the mutated LMNA gene, and it may be possible to correct the gene itself, as stated by the Washington Post. Furthermore, mutation in a yeast protein that is similar to the human WRN protein called SGS 1 causes the yeast to have a shorter lifespan than the yeast cells that are devoid of the mutation. Another fact that was noted was that nucleolus was enlarged and fragmented in the cells with SGS 1, which are typical signs of aging in yeast.

Yeast could be a helpful model for human aging because it may give the means to be knowledgeable about more about Werner's Syndrome, Hutchinson-Gilford Progeria Syndrome, and other related diseases.


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Research essay sample on Genetic Disorder Heart Muscle

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