Tuesday, March 26, 2019
Progeria Essay -- miscellaneous
ProgeriaProgeria is one of the least known inheritableal disorders. there are two types of Progeria, the only difference being the season group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werners Syndrome, which is the boastful form of Progeria. What basically happens in this disorder is that age is accelerated sevener times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could ensure like he is fifty when he is actually five old age old. A twenty year old with Werners Syndrome could look confusable to a sixty or seventy year old person. There is, even now, not much information known about this factortic disorder because of the scarcity of people with this disorder, not to mention the short purport period that they have. The gene for Hutchinson-Gilford Progeria Syndrome was discovered quite recently on April 16, 2003. Researchers substan tiate that the gene, HGPS, is not an inherited disorder because neither parent carries or have a bun in the oven 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, solely 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 enatic 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 ap pear normal at birth, their age begins to accelerate by they time they are 18 to 24 months old. Bones soften and become more(prenominal) fragile, and the even the skin takes the expression of the very old because it becomes thinner. If the bones break, they usually do not repossess properly. Children with Progeria often have a crinkled and beaklike nose, and fat infra the skin is nonexistent to them. The muscles becoming flaccid, hips being dislocated, and joints... ...es, Venezuela, and Vietnam. What has also been noticed of those with Progeria, is that the progeriacs are born with abnormally short telomeres, which are caps of the chromosomes. By they time they warp five, these are as long as a very aged(a) person. Telomeres reach a certain point of division before they began shortening, make 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 capture 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 SGS1 causes the yeast to have a shorter life-time 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 SGS1, which are typical signs of agedness in yeast. Yeast could be a helpful model for human aging because it may give the means to be knowledgeable about more about Werners Syndrome, Hutchinson-Gilford Progeria Syndrome, and other related diseases.