Hutchinson-Gilford Progeria Syndrome (HGPS), which is also referred to as Progeria, is a fatal condition of the genes, which is mainly characterized by highly accelerated aging in children (Progeria Research Foundation 1). Progeria is a Greek word, meaning “prematurely old”. There are different strains of Progeria, but the most common is the Hutchinson-Gilford Progeria Syndrome. This was named after the medical personnel, Dr. Jonathan Hutchinson, who first described in 1886 in England and Dr. Hastings Gilford in 1897. This paper is a description of the disease, its causes, and effects of the disease, clinical symptoms and treatment.
Causes and effects of Progeria
The cause of Hutchinson-Gilford Progeria Syndrome is the mutation of a gene called lamin-a (LMNA). This gene is responsible for the production of Lamin A protein, which holds the cell nuclear together through the formation of a structural scaffolding (Progeria Research Foundation 1). The mutation leads to development of a defect in this gene, which leads to production of unstable Lamin A protein. This makes the cell nucleus instable, leading to an accelerated aging in children.
There is no specific place, where the disease is most common, but it is prevalent in USA, Asia and other countries. Children with this condition might be born looking normal and healthy. However, after 18 to 24 months, they begin to show signs of the conditions, which leads to different health complications. This condition is rare because its symptoms are known to resemble the normal aging of a human being, but the only difference is that it happen in children. Victims of progeria normally develop cardiovascular complications, what causes death to most of them at adolescence.
This are signs that assists the medical personnel to differentiate this condition from other conditions. The symptoms of progeria include
- Growth failure during the first year of life – this happens when the condition sets in and leads to poor growth and development of the child.
- Baldness – this is the loss of hair because of complication in the normal body processes.
- Teeth – delayed or absent formation
- Open soft spot (fontanelle)
- Dry, scaly, thin skin
- Narrow, shrunken or wrinkled face – as the aging starts to occur, the child develops the features of aged people, such as a wrinkled face.
- Loss of eyebrows and eyelashes
- Short stature
- Limited range of motion – the aging process leads to depreciation of the child’s muscles. This has an effect of the motion and can result in to dislocation of joint.
- Large head for size of face (macrocephaly)
- Small jaw (micrognathia)
In the past, there was no test conducted for this condition and doctors depended on the signs and symptoms to determine whether the child was suffering from progeria. However, with the development in technology and its positive impact in the world of medicine, doctors are able to test children for this condition. This test are administered in hospitals, or other medical facilities through performance of physical examinations and laboratory tests (National Institute of Health 1). When this is done, the result for children suffering from progeria will indicate;
- Resistance to insulin
- Changes in the child’s skin, which are similar to those seen in scleroderma, where the connective tissues hardens, or become tough.
The medical practitioners also tests the children for cardiac stress. In case the child is suffering from progeria, the test results reveals atherosclerosis of the blood vessel. With the technological advancement, it is possible to conduct genetic testing, and the result for infected children show changes in the gene responsible for the causing of progeria (National Institute of Health 1).
There is no known specific treatment for progeria. However, children with this condition are put under farnesyl transferase inhibitors (FTI) in the form of a drug called lonafarnib (Mayoclinic 1). This drug was initially manufactured for the treatment of cancer, and has was discovered to have positive effects on victims of progeria. Those under the drug have been found to have positive improvement of cardiovascular health and are able to gain weight.
Progeria is a rare and feared condition as it causes rapid aging in children leading to early deaths. In the past, there was no treatment available for this condition, and the children used to die fast. However, with the discovery of the effects of lnafanib on the victims, there has been hope for the victims. The drug helps to improve the cardiovascular health, therefore prolonging life for the victims.
Mayoclinic. “Progeria: Treatments and drugs – MayoClinic.com.” Mayo Clinic. N.p., 23 Apr. 2011. Web. 10 Oct. 2012. <http://www.mayoclinic.com/health/progeria/DS00936/DSECTION=treatments-and- drugs>.
National Institute of Health. “Learning About Progeria.” National Human Genome Research Institute (NHGRI) – Homepage. genome.gov, 27 June 2011. Web. 10 Oct. 2012. <http://www.genome.gov/11007255>.
Progeria Research Foundation. “Progeria Research Foundation | About Progeria.” Progeria Research Foundation | Home. N.p., 2012. Web. 10 Oct. 2012. <http://www.progeriaresearch.org/about_progeria.html>.