Progeria is an extremely rare genetic disease which causes young children to age very rapidly. This condition is from the Greek word for old age “geras. ” It is estimated that it only affects one in four million newborns throughout the world. A newborn typically will appear normal. Within the year the child’s growth rate decreases and they look shorter and weigh much less than other children around their age. The appearance of these children becomes looking like an older person, such as “baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size” (What do we know about heredity and progeria?2011).
There are also internal symptoms that these children suffer from like joint stiffness, hip dislocations, and brutal cardiovascular disease. Cataracts, osterarthristis, and other features connected with the typical aging process are not seen in children with Progeria. The signs and symptoms are seen between 18 & 24 months and there is a lot of ongoing research and treatments that are being tested. The growth of a child that has Progeria dies down within the first year of life (Symptoms 2011). The chance of getting this disease is the same in boys and girls (Hutchinson Gilford Progeria Syndrome 2012).
The first sign of Progeria is a skin condition which indicates incapacity to thrive, which is called scleroderma (Top 10 Progeria Facts 2012). The height and weight of the child usually falls below the average of other children his or her age. However, what does continue normally is the intelligence and motor development. There are many different symptoms that are visible in a child with Progeria. Some of these symptoms are narrow face, hair loss, visible veins, diminished body fat and muscle. Other symptoms are high-pitched voice, stiff joints, hip dislocation, insulin resistance and irregular heartbeat (Symptoms 2011).
Children with progeria cannot do the activities that other children their age do. It can cause more damage to the body than is already done. There is a research foundation for this disease. It is called Progeria Research Foundation (PRF). It is a nonprofit organization that was started by Dr. Lesley Gordon and Dr. Scott Berns along with their friends and colleagues. They started this foundation when they figured out their 22 month old son, Sam, had Hutchinson-Gilford Progeria Syndrome. The reason Progeria Research Foundation was started was because not many people knew much about the disease.
The foundation is there to help raise awareness, educate and help families, the doctors, and the general public about the disease. Progeria Research Foundation also funds medical research that is specifically aimed at finding the cause. Treatments and cures for this syndrome are more reasons that the foundation funds research for the disease (How PRF was formed). Progeria is an outcome of a fault in the Lamin A(LMNA) gene (Hutchinson-Gilford Progeria Syndrome 2012). The LMNA gene has codes that are for two proteins, Lamin A and Lamin C.
These proteins play a big role in stabilizing the inner membrane of a cell’s nucleus. The mutation that results from the deformation causes the Lamin A protein to be abnormal. This abnormality is what makes the cell’s nuclear membrane to be unstable, in a way that could possibly be particularly damaging to tissues that are used for physical force, such as the musculoskeletal and cardiovascular systems (What do we know about heredity and progeria? 2011). It is unknown why this mutation causes expressed aging (Hutchinson-Gilford Progeria Syndrome 2012). The man who discovered the gene for Progeria, Dr.
Francis Collins, made a mouse model of progeria. He created a mouse that carries this genetic flaw, equal to the one that children have. The mouse model of Progeria shows very brutal vascular disease. It is going to help researchers understand how children develop heart diseases and it is going to help them start testing different ways to find a cure (Three studies released that bring us closer than ever to understanding Progeria and to disease treatment 2012). There is a potential drug treatment for children with progeria called Farnesyltransferase inhibitors (FTI).
It was published by researchers in August and February 2006. They were made for cancer patients originally and they are able to revise the dramatic nuclear makeup irregularities that are the characteristic of cells from children with Progeria. This drug is used with the Progeria-like mouse model and it has shown signs of improvement of diseases. There are two drugs that are going to be mixed with FTI, Pravastatin and Zoledronate. The three drugs happen to target three different places along the path that leads to the production of the disease-causing progerin.
Studies that have been performed with the two new drugs and the results show that the drugs improve disease in Progeria cells and they broadened the lifespan of the mouse models that had Progeria. The goal of this trial is to block the farnesyl group attachment which would paralyze the progerin and then Progeria would be improved. It is hoped that the drugs will work together and complement one another and be more effective than just one drug (Moving Ahead at Lightening Speed as The Progeria Triple Drug Trial Begins! 2012).
These drugs have shown improvement in the mouse models, which gives researched hope that it will improve conditions for children that have Progeria. It takes about a year for symptoms of Progeria to show. There are many different symptoms for Progeria. There are internal symptoms like hip dislocations and joint stiffness. Other symptoms are visible like baldness, aged looking skin, a small face and a pinched nose. These children cannot do the physical activity other children their age can because they fatigue faster and their joints start to hurt.
There are many things that are being done to help find a cure for these kids and to help make them more comfortable. The PRF relies on volunteers to help get the word out so they can raise money to fund research. Many things can be done by the community to help out this foundation. Examples are carry a bake sale at school, do a carwash, a toy drive or even sell the awareness wristbands. Anything can help. These children just wish that they could do everything that their friends do, so finding a cure for this disease would make their lives. The parents of these children would be so unbelievably grateful if a cure was found.
Works Cited 2012. Progeria Research Foundation.
Retrieved from http://www. progeriaresearch. org/ 2012. Top 10 Progeria Facts. Retrieved from http://www. top10stop. com/lifestyle/health/progeria-facts-rare-genetic-conditions-top-10-facts. 2011, June 27. What do we know about heredity and progeria?.
Retrieved from http://www. genome. gov/11007255 Mayo Clinic Staff. 2011, August 2. Progeria. Retrieved from http://www. mayoclinic. com/health/progeria/ds00936/dsection=symptoms Nigel and Adam. 2012. Hutchinson-Gilford Progeria Syndrome. Retrieved from http://runkle-science. wikispaces. com/Hutchinson-Gilford+Progeria+Syndrome.