Progeria Essay -- miscellaneous

ProgeriaProgeria is one of the least(prenominal) know hereditary disorders. There ar two founts of Progeria, the only divergence being the shape up 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 adult form of Progeria. What basically happens in this disorder is that age is accelerated s take down 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 in reality five twelvemonths old. A twenty year old with Werners 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 take down the short life period that they feature. The gene for Hutchinson-Gilford Progeria Syndrome was discovered quite deep on April 16, 2003. Researchers c onfirmed that the gene, HGPS, is not an inherited disorder because neither kick upstairs carries or express the change. 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 tottering nucleus caused by a faulty Lamin-A protein brings about Progeria. This gene is set(p) in chromosome 1, but the exact locus has not been announced yet. Researchers ordinate that Progeria is point autosomal point mutation. This misspelling among 25,000 base pairs causes the shortage of the protein do by Lamin-A. This is alike 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 fall out 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 beaked nose, and fat under 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 turn five, these are as long as a very elderly person. Telomeres reach a certain point of element 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 bordering step is to find a drug that corrects the mutated LMNA gene, and it may be realizable 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 lifespan than the yeast cells that are devoid of the mutation. Another position that was noted was that nucleolus was enlarged and fragmented in the cells with SGS1, which are typic signs of aging in yeast. Yeast could be a helpful pose for human aging because it may give the means to be familiar about more about Werners Syndrome, Hutchinson-Gilford Progeria Syndrome, and other related diseases.