Progeria Research Paper

Within the first year of little Allie being born, her parents realized something was seriously wrong. Allie was not like all the other babies. Her hair began falling out instead of growing. She was gaining barely any weight. Her face became small compared to the rest of her head. What was wrong with their precious baby girl? The doctor eventually diagnosed Allie with Progeria. Her parents had no clue what this rare disease was. Progeria is a fatal disease that steals the youth of children; therefore, research needs to be done to find treatments, and possibly a cure, to prolong the life of these precious children. Progeria’s name is derived from Greek and means “prematurely old” (Gordon 1). This disease is not contagious, and it is not usually genetic (“Progeria Handbook” 1). Progeria is caused by the genetic mutation
of a LMNA gene.
This mutation makes the normally smooth, round nuclei knobby and rough (Bhattacharya 1-2). Sir Jonathan Hutchinson observed the first case of Progeria in 1886 (Gordon 1). The next case was described eleven years later by Hastings Gilford, thus where the full name, Hutchinson-Gilford Progeria syndrome, came from (Bhattacharya 1). The chance of a baby to be born with Progeria is one in four million. If a parent has already had one child with Progeria, the chances of their next baby to get the disease rise to between two and three in one hundred (“Progeria Handbook” 1). What makes these children so special? The first sign that something is different with these kids is their skin. These changes are usually found between birth and the first birthday. Some skin problems that Progeria patients have are skin tightness and dark spots. Kids with Progeria have normal hair when they are born, but within the first two years it gradually falls out. They also lose their eyebrows, but not their eyelashes (“Progeria Handbook” 5).
Their baby teeth come in and fall out later than normal (Gordon 1). Their fingernails do not grow as fast, become shaped weird, and sometimes crack. Another problem is bone size. Their bones are a lot smaller than other kids that are the same age. They do not suffer from fractured or broken bones any more than other kids, but they are much weaker (“Progeria Handbook” 5). Although they do not grow as fast as everyone else, they do grow at a steady rate. Kids with Progeria actually consume enough calories to grow normally, but the disease does not allow it (“Progeria Handbook” 3). Very few reach three feet, six inches tall or 40 pounds. Their joints become stiff, making them look like they are hunched over (Gordon 1). The blood vessels also stiffen and thicken. This sometimes makes plaque and calcium accumulate, causing high blood pressure and heart disease (Bhattacharya 1). “Children with Progeria have low-to-mid frequency conductive hearing loss that is usually mild, but can be moderate (or greater) in degree (“Progeria Handbook” 4).” From the time they are born, kids with Progeria have a high chance of strokes and heart attack. The leading factors of death of children with Progeria are cerebrovascular disease and strokes (“Progeria Handbook” 1). Kids that have Progeria do not experience the dementia or memory loss that comes with ageing. They are not any more susceptible to cancer (Bhattacharya 1). Where did the people even start when trying to treat Progeria? They figured out that a protein called progerin is probably responsible for Progeria. To cause Progeria and block normal cell function, a farnesyl group molecule must attach itself to the progerin protein (“Progeria Handbook” 6). Today there are three drugs that are being studied for the treatment of Progeria. One is a Farnesyltransferase Inhibitor (FTI) called Lonafarnib. After the farnesyl group attatches to the progerin protein, it can cause cellular damage that has been observed in Progeria. Farnesyltransferase Inhibitors prevent the farnesyl group from attaching to the progerian; therefore, it became a possibility in Progeria treatment. Even though Lonafarnib is not approved by the U.S. Food and Drug Administration, it can be given in the approved clinical trials. Lonafarnib was actually used in the first clinical drug trial for kids with Progeria in 2010. The children received an oral dose of Lonafarnib twice a day over the trial. The results showed that the drug improved the child’s bone structure, weight gain, and blood vessel flexibility (Fitzgerald 1). The second drug is Pravastatin. It is normally used for the prevention of cardiovascular disease and high cholesterol, even though most children with Progeria do not have high cholesterol. Pravastatin also blocks the production of the farnesyl group so it can not attach to the progerin protein. Pravastatin became approved by the U.S. Food and Drug Administration in 2006 for sale in the United States. It comes in the form of a tablet to be crushed into food, and is normally given once a day (“Progeria Handbook” 6-7). Lastly, Zoledronic Acid or Zoledronate is used to improve bone density and prevent skeletal fractures. It also helps to block the production of the farnesyl group so it will not be able to attach to the progerin. Zoledronic Acid was approved by the U.S. Food and Drug Administration in 2001. It is given through the blood veins several times a year (“Progeria Handbook” 7). Progeria is a very rare disease that can only be treated, but not cured. The children with this disease have symptoms that make them grow up as if they were an old person and never experience their childhood to the fullest. More research needs to be done in order to find a cure to help these children actually grow old.