Hutchinson-Gilford Progeria Syndrome (HGPS)

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that causes children to age rapidly. The condition is caused by a mutation in the LMNA gene, which provides instructions for making a protein called lamin A. This protein is a structural component of the cell nucleus, and helps to hold the DNA in place and maintain the shape of the nucleus.

In children with HGPS, a small section of the LMNA gene is deleted, which results in the production of an abnormal form of lamin A called progerin. This abnormal protein causes the cell nucleus to become misshapen, which leads to the premature aging symptoms seen in children with HGPS.

Symptoms of HGPS typically begin to appear between the ages of 18 and 24 months and include:

Limited growth and short stature....
Loss of body fat and muscle...
Wrinkled skin...
Baldness...
Aged-looking face...
Visible veins...
Loss of eyebrows and eyelashes....
Stiff joints....
Tooth loss...
Cardiovascular disease...

The life expectancy for children with HGPS is usually around 13 years.

Currently there is no cure for HGFT but the symptoms are treated on an individual basis. The treatment is mainly supportive and involve multidisciplinary approach including; regular check-ups, physiotherapy, healthy diet, and other treatments depending on the symptoms.

There are some research are underway that are trying to find cure or the way to suppress the production of progerin. Some possible treatment include gene therapy, drugs that block the abnormal progerin, or drugs that enhance the normal lamin A production.

It is a rare disorder, occurs in about 1 in 4 million live births worldwide.

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There is currently no known cure for HGPS, but there are several treatments that can help manage the symptoms and improve the quality of life for affected children.

One of the key treatments for HGPS is a drug called lonafarnib, which is designed to block the activity of a protein called farnesyltransferase that is involved in the formation of the abnormal lamin A protein that causes HGPS. Clinical trials of lonafarnib have shown that the drug can improve cardiovascular health and slow the progression of HGPS.

Other treatments that may be used to manage the symptoms of HGPS include physical therapy to maintain mobility, growth hormone therapy to promote growth, and antioxidant supplements to reduce inflammation.

It is also important to provide regular medical care and monitoring for children with HGPS, as they are at increased risk for certain health problems, such as heart disease and stroke.

There are several ongoing clinical trials researching for potential cure for HGPS, for example CRISPR cas-9 based gene editing to fix the genetic mutation on LMNA gene which is the main cause of HGPS

References

https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/

https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-causes/syc-20356038

https://rarediseases.org/rare-diseases/hutchinson-gilford-progeria/

https://www.webmd.com/children/progeria