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.
While symptoms of HGPS occur within the first year of a child’s life, Werner’s Syndrome might not appear until the teenage years and can continue until one reaches his or her maximum lifespan of 40 or 50 years of age. Progeria occurs because there is a mutation in LMNA, a gene that produces specific protein, lamin A protein, that plays an integral role in holding a cell’s nucleus together. This mutation leads to the production of progerin, a protein that causes the nucleus to be unstable. With this instability comes “the process of premature aging and disease in Progeria.(1)” The accumulation of the protein Progerin also affects telomeres, proteins that contribute to the aging process of cells and leads to telomere disfunction.
While HGPS is usually not hereditary, “Children with other types of ‘progeroid’ syndromes...may have diseases that are passed down in families.(2)” HGPS is a form of sporadic autosmal dominance- “sporadic because it is a new change in that family, and dominant because only one copy of the gene needs to be changed in order to have the syndrome.(3)” Progeria can be found in an approximate 1 in every 4-8 million newborns. “There are an estimated 200-250 children living with Progeria worldwide at any one time,(4)” and it has been di...
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...go coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease.(8)”
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Shah, K. N., MD, PhD, Crowe, M. A., MD, & Butler, D. F., MD. (2013, August 20). Hutchinson-Gilford Progeria . Medscape. Retrieved January 12, 2014, from http://emedicine.medscape.com/article/1117344-overview
Fitzgerald, K. (2012, September 26). First successful treatment for Progeria, rare childhood disease. Medical News Today. Retrieved January 12, 2014, from http://www.medicalnewstoday.com/articles/250725.php
(2011, April 23). Progeria. Mayo Clinic. Retrieved January 12, 2014, from http://www.mayoclinic.org/diseases-conditions/progeria/basics/treatment/con-20029424
Sam Berns or Simpson Gordon Bern’s was born October 23, 1996, and died January 10, 2014.He was born to Dr. Leslie Gordon and Dr. Scott Bern.Who found out that their son Sam has Hutchinson-Gilford Progeria Syndrome. Sam was twenty-two months old then. when
ED. Mayo Clinic Staff -. Mayo Foundation for Medical Education and Research, 05 Jan 2012. Web. The Web.
There are four different categories of treatment: lifestyle changes, surgical procedures, non-surgical procedures, and medications. Lifestyle changes include having a healthy diet; increasing physical activity; eliminating cigarettes, alcoholic beverages, and illicit drugs; and getting enough rest and sleep; losing excess weight. These lifestyle changes are to lower the patient’s blood pressure, cholesterol, and reducing any other future medical conditions. There are also surgical options to help cure, prevent, or control cardiomyopathy. Surgical method include a septal myectomy, surgically implanted devices, and a heart transplant. A septal myectomy is used to specifically treat hypertrophy cardiomyopathy which is where the heart muscle cells enlarge and cause the walls of the ventricles to thicken. The thickening of the walls may not affect the size of the ventricles but instead may affect the blood flow out of the ventricle. Usually along with the ventricles swelling, the septum in between the ventricles can become enlarged and block the blood flow causing a heart attack. When medication is not working well to treat hypertrophic cardiomyopathy, a surgeon will open the chest cavity and remove part of the septum that is blocking blood flow. Surgically implanted devices include a pacemaker, a cardiac resynchronization therapy device, a left ventricular assist device, and an implantable
Humans undergo several stages during their lifetime including growth, development, reproduction and senescence. Senescence is defined as the deteriorative biological changes that organisms experience as they age eventually leading to death. These changes include low metabolism, a weak immune system, memory loss, poor vision and loss of hearing. Senescence begins in humans during their post-reproductive years. However, gerontology research has shown that individuals who reproduce late have longer life spans compared to individuals who reproduce early. Nonetheless, it does not indicate that senescence is inevitable. All organisms experience senescence, but at different rates and time. Many genetic diseases such as Alzheimer’s disease and Huntington’s disease are prevalent in older individuals and the symptoms being to appear in middle adulthood. The causes of genetic diseases and disabilities in older individuals are explained by three evolutionary theories: antagonistic pleiotropy theory, mutation accumulation theory and disposable soma theory. These theories suggest that favorable natural selection and heavy allocation of resources for somatic maintenance during the reproductive period decreases the chances of genetic diseases in younger individuals.
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
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.
Aging occurs in every species. Over time a change occurs on a cellular level in a person’s body, which causes degenerative effects on the brain, muscles, organs, bones, hormones, and DNA. In 1991, the book Evolutionary Biology of Aging, offered the following definition of aging: a persistent decline in the age-specific fitness components of an organism due to internal physiological deterioration.1 Aging affects the body physically and mentally. Many people dread getting older due to the numerous changes the body goes through. The geriatric population experiences many pains and is inflicted with various diseases. There are a few who are lucky enough to not get diagnosed with a life altering disease, such as Alzheimer’s, type II diabetes, high blood pressure, macular degeneration, or some form of cancer. Studies have shown that genetics play a vital role in the aging process.
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Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Web. The Web. The Web. 1 Apr 2011. http://www.medicalnewstoday.com/articles/150999.php>.
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
There are various types of this disorder. It depends on gene factor relating to the child’s parents. The more altered genes, the more severe your condition. Hemoglobin particles are made of alpha and beta parts that can be affected by mutations. There are three major forms of this disorder that are categorized based on the severity of symptoms. They are minor, intermediate and major. Children with the minor or trait of the disorder do not experience any symptoms and may not require treatment. Children with the intermediate f...
Ed. David Zieve. U.S. National Library of Medicine, 26 Feb. 2014. Web. The Web.
"MedlinePlus - Health Information from the National Library of Medicine." National Library of Medicine - National Institutes of Health. Web. 06 Mar. 2011.