Progeria free essay sample

Progeria is a disease that produces rapid aging, beginning in childhood. Causes Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children. Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. A study from the Netherlands has shown an incidence of 1 in 4 million births. Currently, there are between 35 and 45 known cases in the world. Approximately 100 cases have been formally identified in medical history. Classical Hutchinson-Gilford Progeria Syndrome is almost never passed on from parent to child. It is usually caused by a new (sporadic) mutation during the early division of the cells in the child. It is usually genetically dominant; therefore, parents who are healthy will normally not pass it on to their children. Affected children rarely live long enough to have children themselves. There have been only two known cases in which it became evident that a healthy parent can carry the LMNA mutation that causes progeria. A family from India has five children with progeria; they were the subject of a 2005 Bodyshock documentary entitled The 80 Year Old Children. In the other case, a family from Belgium has two children with progeria. Symptoms of progeria include:Symptoms Growth failure during the first year of life Narrow, shrunken or wrinkled face BaldnessBaldness Loss of eyebrows and eyelashes Short statureshort stature Large head for size of face (macrocephalymacrocephaly) Open soft spot (fontanelle) Small Jaw (micrognathiamicrognathia) Dry, scaly, thin skin Limited range of motionLimited range of motion Teeth delayed or absent formationTeeth delayed or absent formation Some exams and tests that can be run to determine if a child is diagnosed with progeria include: Exams and Tests Insulin-resistant diabetesdiabetes (diabetes that does not respond readily to insulin injections) Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened) Cardiac stress testing may reveal signs ot early atherosclerosis of blood vessels. Genetic testing can detect mutations in lamin A that cause progeria. Treatment Treatment There is presently no treatment for progeria. Several discoveries have been made that have led to greater understanding and perhaps eventual treatment. A 2003 report in Nature said that progeria may be a de novo dominant trait. It develops during cell division in a newly conceived zygote or in the gametes of one of the parents. It is caused by mutations in the LMNA (lamin A protein) gene on chromosome 1; the mutated form of lamin A is commonly known as progerin. One of the authors, Leslie Gordon, was a physician who didnt know anything about progeria until her own son, Sam, was diagnosed at 21 months. Gordon and her husband, pediatrician Scott Berns, founded the Progeria Research Foundation. Support Groups Progeria Research Foundation, Inc. www. progeriaresearch. orgwww. progeriaresearch. org Aging Children with Progeria are genetically predisposed to premature, progressive heart disease. Death occurs almost exclusively due to widespread heart disease, the leading cause of death in the US, and #2 worldwide. As with any person suffering from heart disease, the common events for Progeria children are strokes, high blood pressure, angina, enlarged heart, and heart failure, all conditions associated with aging. These children get heart disease at an incredibly accelerated pace, usually y the time they are 12, 13 or 14. In the general community, the prevalence of cardiovascular disease starts appearing in the 60s and 70s. Obviously, theres some process thats accelerated. † Dr. Samer NaJJar, head of the Human Cardiovascular Studies Unit at the National Institute on Aging Thus there is clearly a tremendous need for research in Progeria. Because finding a cure for Progeria will not only help these children, but may provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process. Because the aging process is ccelerated in children with Progeria, they offer researchers a rare opportunity to observe in Just a few years what would otherwise require decades of longitudinal studies. A better understanding of the causes of this syndrome (Progeria) could lead to better insights into the mechanisms of both development and aging. National Institute of Aging Associate Director Dr. Huber Warner Its amazing how much Progeria resembles the normal aging process. I think these proteins linked to Progeria play a very profound role in the aging process, and I think weve already seen some pretty big findings in terms of what these proteins do. Ђâ€  Dr. Whelm Bohr, chairman of molecular gerontology at the National Institute on Aging Atherosclerosis Children with Progeria also develop and die of atherosclerosis and arteriosclerosis (commonly referred to as heart disease). Atherosclerosis is Just one of several types of arterio-sclerosis, which is characterized by thickening and hardening of the arteries, but the two terms are often used to mean the same thing. Some hardening of the arteries often occurs when people grow older. Atherosclerosis involves deposits ot tatty substances in the inner lining ot an artery. This buildup is called laque. Plaques can grow large enough to significantly reduce the flow of blood through an artery, or plaques become fragile and rupture to form clots that can block blood flow. If the blockage occurs to an artery that feeds into the heart, it causes a heart attack. If the blockage occurs to an artery that feeds into the brain, it causes a stroke. Atherosclerosis is not only the cause of death among children with Progeria, but also the leading cause of death in the United States and many other parts of the world in normal aging individuals. It is our hope that the discovery of the Progeria ene will have a beneficial effect not only for Progeria patients, but also for the millions of people affected by aging-related conditions, including heart attacks and stroke caused by atherosclerosis and arteriosclerosis. Outlook (Prognosis) Progeria is associated with a short lifespan. The average patient survives to the early teens. However, some patients can live up to 30 years. The cause of death is usually related to the heart or a strokestroke as a result of the progressive atherosclerosis. Possible Complications Heart attack (myocardial infarction)myocardial infarction)