What Is Progeria Essay example

Submitted By donnajo18
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Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children. It is usually not passes down through families. It is also rarely seen in more than one child in a family. For a long time there has been no treatment for progeria, but recently there has been a treatment found to reverse some aspects of it. Researchers have discoveren a single gene mutation responsible for progeria syndrome. The gene is known as lamin A (LMNA), which makes a protein necessary for holding the center (nucleus) of a cell together. Researchers believe the genetic mutation renders cells unstable, which appears to lead to progeria’s characteristic aging process. Unlike many genetic mutations, progeria is not passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children’s genes are new. When a child is first born, you cannot tell whether they have progeria or not. There are absolutely no signs or symptoms in a newborn. You don’t usually start to see any difference in the child until about 12 months, where their growth rate slows and they soon are much shorter and weigh much less than others their age. While having normal intelligence, affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to the head size. Some other symptoms of progeria are: loss of eyebrows and eyelashes, open soft spot, limited range of motion, and delayed or absent formation of the teeth. If you think that your child may have progeria, you should make an appointment so testing can be done on the child. The testing that would be done, would be genetic testing. A genetic test for LMNA mutations can confirm the diagnosis of progeria. One of the main effects of progeria is early death. Patients usually only live to their teenage years. However, some patients can live into their early 20s. the cause of death is usually relayed to the heart (heart attack) or from a stroke. Up until September of 2012, there had been no treatment for progeria, and most kids lived until about 13 years old. However, doctors did find that Lonafarnib, originally developed to treat cancer, has proven effective for progeria. Twenty-eight children from sixteen countries participated in the 2 ½ year drug trial, which was 75 percent of known progeria cases worldwide at the time. The children would travel to Boston every four months to receive comprehensive medical testing, they would also all receive oral lonafarnib twice a day for two years. Rate of weight gain was the primary outcome. The researchers also examined many other areas of the body, including arterial stiffness, bone rigidty, and hearing. “Though there is no way to know whether we have delayed strokes, heart attacks, or increased longetivity within just a two-year treatment period, these positive results compel us to continue pushing for new treatments until we accomplish what we set out to do in 1999,” states Dr. Gordon. Most people would think that having progeria would be hard to handle…