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Progeria
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 beaklike nose, and fat under the skin is nonexistent to them. The muscles becoming flaccid, hips being dislocated, and joints...
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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 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 SGS1 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 SGS1, 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.
It is generally understood that getting enough sleep plays an important factor as people go through their day to day lives, nevertheless many people do not rank sleep as one of their top priorities. In many cases, people prefer to use the time spent on getting the proper amount of sleep on other activities such as finishing a report for work or doing some last minute studying for a midterm. However, reducing the amount of sleep one gets not only affects one’s academic performance, but their physical health as well.
The crops started many years ago, with the switch grass, which is now made for bundling and farm feed, with out the switch grass we may not have the dairy and poultry we have today. Making sure our animals are fed well, is and important thing for the people and the communities. Cotton is another big thing Mississippi has started. Without cotton we would not have the comfortable cloths we wear today, and the towels we dry off with and the pillows and the blankets we sleep with at night, cotton is also used for many medical reason such as gauze for after surgery, and to keep the medicines fresh such as ibuprofen. I am proud to say that cotton is playing an even greater role in our every day lives.
According to Wilson (2005), sleep deprivation can cause not only traffic accidents, but also medical conditions such as: obesity, type 2 diabetes, metabo...
The main cause of Progeria is a genetic mutation. This disease stems from "a single-nucleotide substitution that leads to aberrant splicing of the LMNA, the gene that encodes for the A-type nuclear lamins."(Kudlow, Kennedy, and Monnat 398) This single-letter misspelling occurs on chromosome 1 of the gene, which codes for lamin A. A point mutation from cytosine to thymine ensues near the end of the LMNA gene, a discovery by the Collins Laboratory. Gly608Gly,the most common mutation, results in "one hundred and fifty nucleotides encoded in exon eleven to be spliced out of the final mRNA and results in a protein that lacks 50 amino acids." (Kudlow, Kennedy, and Monnat 399) Now that the mutation has taken place, the cells begin to synthesize abnormal lamin A proteins known as Progerin. Newly produced Progerin still have the attached farnesyl group engendering the Progerin to connect to the nuclear membrane permanently. Due to thi...
This extremely rare disease is caused by a mutation in the LMNA gene. Normally this gene produces a protein called Lamin A. This protein functions as a structural component in the nuclear envelope, and plays an important role in determining the shape of the nucleus. According to Sarkar, mutations that cause Hutchinson-Gilford progeria syndrome result from the defective Lamin A protein. This alteration creates an unstable nuclear envelope there by damaging the nucleus. Cellular instability leads to the process of premature aging
Mississippi History cannot be talked about without reference to the Mississippi River, cotton, or racism. All three played a major part in the formation of Mississippi history and its continuing development. The Mississippi River gave the state its name and plays a major role in the state’s transportation system and economy. Cotton was Mississippi’s largest cash crop during slavery and beyond and still places high on the state’s list of domestic products. Racism has been prevalent in Mississippi since before it became a state. It was at the root of slavery, sharecropping, and segregation.
Jelier, Richard W. and Sands, Gary. Sustaining Michigan : metropolitan policies and strategies. East Lansing: Michigan State University Press, 2009. Book.
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
Mississippi History was built on three ideas: cotton, slavery, and landownership. The privileged white planters who owned the land and slaves grew the cotton and ruled Mississippi society. The civil war destroyed the basis of Mississippi society. Slavery is no more, cotton is no longer king, and being white and owning land is not the basis of political power. Other industries have taken their place alongside cotton. Mississippi is a more integrated society, but not without a fight.
The Police in Detroit are yet another problem going downhill. The size of the police team in Detroit has been cut by about 40 percent in the last decade. In 2012 the emergency manager reported that the police department had about 2,030 employees. But city officials also stated that out of those 2,030 employees only about 33 percent was actually patrolling the city. If no officers are out controlling and making sure the city safe that just leaves room fo...
Sleep deprivation is increasingly recognized as a worldwide public health concern as researchers found that lack of sleep impairs human functioning[2]. The majority of individuals was found to be sleep deprived as they are forced to restrain their sleeping hours to compensate increasing working hours, especially individuals whose professions’ is in line with healthcare, security and transportation sectors as they are often required to be on duty even at night [1]. Regardless of whether the individual was totally or partially sleep deprived, it was proven that both had adverse effects on the human body[3]. Further studies revealed that sleep deprivation affected ones’ cognitive and motor performance as well as mood[2].
Crime has always been a problem for the city of Detroit: But as of the past decade crime in Detroit has reached an all time high. On September 30, 2008 a man was gunned down as he walked out the church doors of his mother’s funeral. As if this sight wasn’t shocking enough, some of the members that were attending the funeral drew guns and returned fire at the gunmen. The pastor of the church, Rev. Walter Cheeks had this to say: “Next thing I know I look up and then everybody shooting… Uh, I mean it was just, it it it was just… I never seen nothing like it.”(DetroitsGreatVideos). A scene that seems so surreal was very realistic on this day in Detroit. On June 30, 2009 seven summer school students were shot by two masked men, while standing at a public bus stop. Three of the victims were in critical condition. The victims range between the ages 14-17. The inc...
Werner syndrome, also known as Adult Progeria, is a devastating disease characterized by early aging, short and thin stature, and bilateral ocular cataracts. Patients with this disease also experience increased susceptibility to cancer and a lower expected lifespan. Since Werner syndrome is an autosomal recessive disease, patients will therefore need recessive alleles from both parents to fall victim to the disease. The WRN protein is a member of the RecQ family of DNA helicases and is involved in diverse pathways including DNA repair, replication, Telomere metabolism, and P53 mediated pathways. (Agrelo paper). Werner syndrome is strongly associated with a decreased amount of the complete WRN protein.
Children with Down syndrome are normally smaller, and their physical and mental improvements are slower compared to children who are unaffected.Some of the physical features in children have flattening of the back of the head, slanting of the eyelids, small skin folds at the inner corner of the eyes, depressed nasal bridge, slightly smaller ears, smal...
Down syndrome has always been defined as a genetic condition. It is also known as Trisomy 21, and it is the most common genetic cause of intellectual disability. Nelson and Gibbs (2004) said “Trisomy results from sporadic nondisjunction of chromosome 21 leading to three copies of the smallest human chromosome”. Trisomy 21 is the cause of about ninety-five percent of observed Down syndrome. Most of the nondisjunction comes from the maternal gamete while a very small amount of the nondisjunction comes from the paternal gamete. Along with Trisomy 21, there is also translocation. Cross, Gensburg, and Olsen (2003) said that “Approximately 5% of cases are due to translocation resulting in the presence of three copies of the q arm of chromosome 21”.