HUTCHINSON-GILFORD PROGERIA SYNDROME

Progeria

Progeria is a rare genetic disease that causes rapid aging in children (usually within the first two years of life)

Its name comes from the Greek and means "prematurely old." While there are different forms of Progeria, the classic type is Hutchinson-Gilford Progeria Syndrome, or HGPS , which was named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and in 1897 by Dr. Hastings Gilford.

April 6, 2003
Francis S. Collins, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI) and leader of the research team who made the discovery, announced the discovery of the Progeria gene.

HGPS is not an inherited condition that is passed down from parents to their
kids. Mutations can happen randomly in the LMNA gene during development of the sperm and egg. It could happen to anybody.

WHO IS AFFECTED

• Progeria affects approximately 1 in 4 - 8 million newborns.
• There are an estimated 200-250 children living with Progeria worldwide at any one time
• It affects both sexes equally and all races.

COMMON CHARECTERISTICS

Effects On The Body

In 2003, the researchers discovered that a mutation in the lamin A (LMNA) gene cause HGPS. Normally, this gene provides the body with instructions on how to make proteins that hold the nucleus of cells together. When this gene is mutated, one of these proteins, called lamin A, is not produced properly. As a result, the cells in the body are unstable and the nuclei become damaged over time. This makes the cells more likely to die prematurely and leads to symptoms of progeria. It affects chromosome 1 which accounts for 8-10% of the human genome

We all make a little bit of progerin, the disease-causing protein in Progeria. We make much less progerin than children with Progeria, but the progerin builds up over a lifetime and may be partly responsible for aspects of aging such as atherosclerosis. Progerin is also linked to telomere dysfunction. Telomeres are proteins that play a major role in cellular aging.

Life Expectancy

The estimated lifespan of someone living with Progeria is on average 13 years, but ranges from 7-30 years old.

Signs and symptoms
Symptoms HGPS typically develop when the child is six months to two years old. During this time, the child grows much slower than children of the same age, in terms of height and weight.
Physical features: Children with HGPS also have distinct physical features. Including hardening and tightening of the skin (called scleroderma), a disproportionately large head, loose skin that looks old and , prominent veins in the scalp, small lower jaw, high-pitched voice, delayed shedding of baby teeth, abnormal tooth formation, stiff joints, hip dislocations, and loss of body fat and muscle
Motor development and mental development are unaffected

Treatment
-There are currently no cures for HPGD
- Children are usually treated for heart disease (that is their most common cause of death)

Research and Clinical Trials

- Medical professionals are searching for a cure. There's currently a clinical trial at the Boston Research Hospital. Studies have found that farnesyltransferase inhibitors could increase the lifespan of a person living with HGPS

RESOURCES

• http://www.progeriaresearch.org/progeria_gene_discovered.html
• http://www.genome.gov/11006962
• http://www.imetum.tum.de/forschung/epigenetik/allgemein/
• http://www.progeriaresearch.org/whats_new_in_progeria_research.html#May2014