There are less than three hundred cases of Hutchinson Gilford Progeria Syndrome in the world.(Asselin, 2014) The possibility of being born with it is obviously extremely small. Even though the possibility is small, the need to know about it and understand it is great. The people impacted by HGPS are merely children. They are innocent children with their lives cut short. All of this happens because of a small change in their genes.
Hutchinson Gilford Progeria Syndrome is a genetic disorder that causes premature aging. It is caused by a point mutation in the gene, Lamin A. The child has normal emotions and intelligence. It does not impact the brain only the health and appearance.
Progeria causes the child to have the physical characteristics of an old person. The first time it is visible that something is wrong is the age of one- or two-years-old. It mainly affects the cardiovascular system. It not only affects the cardiovascular system but also the skin and appearance. That is why at age ten they look and have the cardiovascular problems of an eighty year old.
When the children are diagnosed they have a number of symptoms that point towards progeria. When they are born there is no sign that they have progeria. They look like normal babies. They start having the appearance of someone with progeria as they get into their first or second birthday. They start to loose all of their hair, including the eyebrows, their veins start sticking out like an elderly person's would. They have ears that have no ear lobes and that stick out a lot."A broad, mildly concave nasal ridge nose, prominent eyes, thin lips and micrognathia (small jaw) with a vertical midline groove in the chin."(Baek, McKenna, Eriksson, 2013) Their teeth grow slowly...
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...The reason she lived so long may be because of that treatment.(Life According to Sam, 2013)
I learned a lot about Hutchinson Gilford Progeria Syndrome. I had an idea of what it was before doing my research. It is a genetic disorder that causes premature growth. And it all happens because of one change in the bases. The change of thymine to cytosine. It is amazing how such a small change can impact so much. The thing that I kept in mind as I did my research was that these kids that have progeria are just kids. They could be just normal children if it were not for that change. That is why so many people are working to find a cure for it so they can live a somewhat normal life. I also learned about the importance of finding a cure for genetic disorders, whether they impact someone's life as much as progeria or only impacts a small bit it is still extremely important.
Progeria, also known as Hutchinson-Gilford Progeria Syndrome, or “HGPS,” is a disease that is commonly identified for premature aging in children. Its name is derived from the Greek word “geras,” meaning “prematurely old,” or “old age.” Several forms of Progeria are in existence, including HGPS and Werner’s Syndrome. The most severe type, HGPS, was first studied in England in 1886 by Dr. Jonathan Hutchinson, and again in 1897 when research was conducted by Dr. Hastings Gilford.
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...
...day with this fatal disease. A mutation in the Lamina A protein cell results in rapid aging, ultimately affecting how one lives their life. With an early diagnosis of Progeria, damage can be prevented and also following management precautions can greatly increase the quality of life.
My first experience with genetics in a lab setting was in my AP Biology class, where we worked with recombinant plasmids. Because I so thoroughly enjoyed that learning experience, I went online to look at the various applications of genetics, discovering how a world of possibilities still lies in the near future in the field of genetics. DNA is the code for all life as we know it, and now that we have the capability to manipulate it, the applications for genetic biotechnology in tackling genetic diseases and mutations are unbounded. This prospect truly excites me because of its potential to help others. I aspire to be able to help others with the work and research I perform in the field of genetics in the future.
It is estimated that 1 in 4 million newborn children are affected with this syndrome worldwide. It starts with the children suffering from scleroderma, which makes the skin appear scaly and thin. Within the first year there is a slowing in their growth rate and weight gain the physical development becomes stagnant, at two to three years of age their hair starts to fall out and they lose subcutaneous fat. The intelligence, and emotional development of children with progeria are on pare with children the same age but not affected by the syndrome (Hennekam, 2006 pp. 2603-2624).
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.
Her detrimental relationship with her mother turned into a psychosomatic disease, which later affected her life and the people in it.... ... middle of paper ... ... 12 Nov. 2013. http://web.ebscohost.com/ehost/detail?sid=8255d75b-58ea-4383-be87-4f5601606c51%40sessionmgr13&vid=1&hid=26&bdata=JnNpdGU9ZWhvc3QtbGl2ZQ%3d%3d#db=lfh&AN=17088173>.
Also, they have small heads and a slope forehead. They usually have major structural problems with the brain and they are usually diagnosed after birth. Regularly, the front of the brain doesn’t divide properly (holoprosencephaly). Which causes changes in the face development. The eyes are close set, or the nose or nostrils are underdeveloped. Cleft lips and cleft palate are common with babies with Patau Syndrome. Eye problems are common, and sometimes they have scalp abnormalities (cutis aplasia) which resemble ulcers. They also may have birthmarks that are purplish-red in color. Many babies with Patau Syndrome Have extra toes or fingers (polydactyly). There are many other possible health issues such
These symptoms usually begin in early infancy around 3 to 5 months. Before this the child appears normal showing no sign of this fatal disease.at the 3-5 age mark the infected infants begin having problems with their development. They might have a delay in their motor skills such as turning/rolling over. Also they might have trouble controlling head movements, and sitting up without support. These infants usually have weak muscle tone which is called hypotonia. “The infants have an unusually large head called macrocephaly, abnormal posture, and intellectual disabilities. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop.” Basically these babies are surviving on the bare minimum. Children with Canavan disease cannot crawl, walk, sit or talk. They even have reduced visual responces. The life expectancy for people with Canavan disease varies. Most affected children live only into childhood, many not past the age of 10. Canavan disease is found mostly in people of Ashkenazi (German and Eastern European) Jewish ancestry. It is estimated that 1 in 40 Ashkenazi Jews carries the Canavan gene. It is also found in other ethnic
Hutchinson-Gilford Progeria Syndrome is one of the world’s rarest diseases. There have been less than a hundred reported cases worldwide. Although the cause of the disease has been detected, because of its rarity, there is still no known cure for the condition. The life expectancy of a child with Hutchinson-Gilford Progeria Syndrome is 13 years. Many efforts have been made to help find a cure for this disease. The Progeria Research Fund is solely focused on raising funds towards the research for this fatal condition.
Duane syndrome is a genetic disorder. This is an eye movement disorder. Duane syndrome is congenital, which means you are born with this genetic disorder. The cause of this genetic disorder is when the Lateral Rectus muscle does not work properly and eye muscles to contract when they shouldn’t and other eye muscles not to contract when they should. This happens during the third or eighth week of pregnancy. Although Duane syndrome develops during pregnancy, most are diagnosed at age ten. Only eighty percent of people with this genetic disorder has only one eye affected. It is about sixty percent of Duane syndrome patients are girls and about forty percent boy patients.
Some of those symptoms are tall stature, small head, vertical skin folds, speech and language learning disabilities, weak muscle tone, abnormal bending of the pinkie towards the ring finger, and wide spaced eyes. Lots of the symptoms are not noticed on the outside except through the way the child learns. If they learn at a normal rate then it is very unlikely they have this disease. Speech and language learning disabilities is a result of the damage to the motors in your brain from this disease. One very big inside symptom would be the absence of a kidney or even a deformed kidney. This kind of abnormality can cause urinary tract infections and other problems. Something like flat feet could be caused by the tall stature. Having to support all that extra body weight could cause your feet to have to adapt and that is where you would get your flat feet from. Also the body has to pump a lot more blood and so that can cause heart abnormalities. A lot of the symptoms of this disease are caused by the mutations or changes to the body to supply a bigger demand. By the bigger demand I mean the taller stature. The body has to compensate some how and these mutations to the body are just some of the ways the body compensates. All the other symptoms are just more of a problem then a way to compensate. Like the kidney abnormalities. That is a really bad symptom to get and that can cause a whole lot of pain and even more problems
This is a genetic condition that is characterized by the dramatic, rapid appearance of aging beginning in childhood. Children with this condition more often have prominent eyes, thin lips, a thin nose, and protruding ears. Alopecia is also common and so is aged looking skin and joint abnormalities. Hardening of the arteries (arteriosclerosis) is also common. This increases the chances of having a heart attack or a stroke. This condition is rare and is reported to occur in 1 in 4 million newborns worldwide. This condition is diagnosed by genetic testing along with other physical examinations. This condition is caused by a mutation in the LMNA gene. The LMNA provides instructions for making proteins called lamin. This condition results in the production of an abnormal version of the lamin A protein. Because of this mutated protein, the nuclear envelope is unstable and the nucleus becomes progressively damaged. The average life expectancy for someone with this disease is approximately 13 years old. There is not a known cure for this disease, but medications and therapy can help alleviate
...dition, so the doctor thought that this weakness was the reason she died.What really killed her was being put back into the role that was forced and expected of her. When her husband walked in, all of her feminine freedom vanished.
...it as long as she could. She did not want to go through treatments. She was found dead in the nurses’ station on the fifth floor of the hospital. She hung herself with an extension cord. The note found in her pocket said, “I hope a cure is on its way for those that are still here.” She left through the chute that I now walk through. Michelle and Shirley became ill shortly after that. They tried the traditional treatments and then the experimental treatments. They were not strong enough to make it, and died while having surgery. I am one of the lucky ones. I am still here. I have seen too much death for one person. I am still glad that I took this job years ago, but as I walk down the hill I know that my life will never be the same. I get into my car and never look back. I hope someday that they make a memorial of this place in honor of lives lost.