Progeria


 * Overview:** Progeria is a disorder where children begin to rapidly age. They are born looking seemingly healthy, but show signs as soon as two years old. Currently, there is no treatment or cure for the disorder (2). Also, the disorder is ultimately fatal, with most lifespans between 13-16 years.

**Symptoms:** Someone with the disorder may seem to rapidly age; as they grow up, they develop the features of people who are generations older than them. This may include stunted growth, stiff joints, heart disease, etc. Their bones are very weak, and they lose their fat very rapidly. Progeria is fatal, and people with it live an average of 13-16 years (3).

**Genetics:** Progeria is a autosomal dominant disorder. There is only one type of Progeria, called Hutchinson-Gilford Progeria Syndrome (HGPS). Progeria is caused by the mutation of a gene, that codes for LMNA, which is responsible for holding the center of the nucleus together (6). The mutation is random and occurs after conception. Progeria is very rare, and is rarely passed down due to the fact that people with Progeria usually pass away before they have children.

**Distribution:** Progeria affects men, women, and all ethnicities equally. This may be because of the lack of reported occurrences, as there were only 200 reported cases as of January 2014. Developing countries may not report all cases of disorders, including Progeria, so the data about the distribution has a possibility of being inaccurate. There is a one in 18 million chance of receiving the disorder (6).

**Management and Treatment:** Although there is no medically approved/ recognized therapy for Progeria, there are many suspicions that exposing cultured HGPS fibroblasts to an antibiotic that has been associated with regulating aging cellular pathways called rapamycin, may help to slow down the progression of Progeria (1). Also, constantly checking the child for heart disease and blood vessel issues may help with monitoring and managing Progeria (2). Also, to help the person struggling with Progeria to manage emotionally, therapy and support group sessions do exist to allow those affected to talk about their experiences with others who truly understand their struggles.

**Miscellaneous:** The name "Progeria" is derived from the Greek word for "prematurely old" (3). Leon Botha, a famous South-African artist, is an example of a well-known person who suffered from Progeria (5). Although not many famous people have Progeria, children who suffer from the genetic disorder do win over the hearts of thousands of people globally for their touching stories and fundraising efforts.

**Society and Culture:** Sadly, Progeria negatively affects society; since it is fatal, many people struggling with Progeria pass away before they are old enough to make a life for themselves/contribute to a company or any other job (the average age of death is between 13 and 16 years old, and the longest recorded survival was 26 years (4)). Although it is constantly referred to as Progeria, the full name of the genetic disorder is Hutchinson-Gilford Progeria Syndrome. Common names people in society use to talk about Progeria include HGPS, Hutchinson-Gilford Syndrome, Progeria of Childhood, and many others. media type="youtube" key="S67FslpRA3o" width="408" height="232" This video shows children's experiences with Progeria, as well as their parents' struggles.

**History:** Progeria was discovered in 1886 by Jonathon Hutchinson. Clearly, Hutchinson's name became part of the name of the disorder (Hutchinson-Gilford Progeria Syndrome) (4). He kept notes on a young child who expressed the symptoms of Progeria. Since no other case similar to the one Hutchinson had was recorded, the disorder was named partly after him. The other part of the name - specifically the word "Progeria" - is Greek for "prematurely old".


 * Further Research: ** There are many places that are devoted to studying Progeria and helping those who struggle with the disorder. One of these organizations is the Progeria Research Foundation. Their website has almost all of the facts about Progeria, and ways to donate. For more details about Progeria, you can also visit the Mayo Clinic website. In addition, the Autosomal Dominant wiki-page has information about how autosomal dominant disorders occur, and the Huntington's Disease wiki-page provides an example of another autosomal dominant disorder.

**References:** 1. eMedicine Medscape, "Hutchinson-Gilford Progeria Treatment", updated 2018, date accessed 4/26/18 2. Mayo Clinic (mayoclinic.org), "Progeria Diagnosis and Treatment", updated and copyrighted 2018, date accessed 4/26/18 3. The Progeria Research Foundation, 'Progeria 101", updated 2017, date accessed 4/26/18 4. Who Named It, "Hutchinson-Gilford disease", updated 2018, date accessed 4/26/18  5. Health Research Funding, "Famous People With Progeria", updated: unknown, date accessed 4/26/18  6. NORD (National Organization for Rare Disorders), "Hutchinson-Gilford Progeria”, published 2014, date accessed 5/2/18