BY STACY ODHIAMBO
Progeria syndrome also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare genetic condition that causes premature aging in children.
The disorder is characterized by accelerated aging, which affects individuals displaying symptoms typically associated with advanced age, such as wrinkled skin, hair loss, and joint stiffness.
Progeria syndrome is caused by a mutation in the LMNA gene, which provides instructions for producing lamin A/C proteins.
These proteins play an essential role in the structure and stability of the cell nucleus. The mutation causes a specific part of the lamin A/C protein to be produced incorrectly, which leads to the formation of an abnormal protein called progerin.
Progerin accumulates in the nucleus and alters the structure of the nuclear envelope, which affects the cell’s normal functioning. This, in turn, leads to the symptoms associated with Progeria syndrome.
The symptoms of Progeria syndrome usually appear in the first two years of life and progress rapidly. Children with Progeria syndrome have a distinct appearance: a small face and head, a thin nose, and prominent eyes.
They also have fragile, wrinkled skin and hair loss. In addition, they have growth retardation, and their bones become thin and brittle, leading to joint stiffness, hip dislocation, and other skeletal abnormalities.
They are also prone to developing atherosclerosis, the buildup of plaque in the arteries, and other cardiovascular diseases.
There is currently no cure for Progeria syndrome. However, treatment can help manage the symptoms and improve the quality of life of affected individuals.
Treatment may include medication to manage cardiovascular symptoms, physical therapy to maintain joint flexibility, and orthopedic surgery to correct skeletal abnormalities.
Other treatments, such as growth hormone therapy, have also been used. However, these treatments do not stop the progression of the disease.
Raising awareness about Progeria syndrome is essential to improve affected individuals and their family’s quality of life.
Awareness can help increase funding for research into the causes and treatment of the disease and support for affected individuals and their families. It can also help reduce the stigma and discrimination people with Progeria syndrome may face.
There are many ways to raise awareness about Progeria syndrome. One way is to share information about the disease on social media and other online platforms.
Another way is to organize events and fundraisers to support research into the causes and treatment of the disease.
Schools and other educational institutions can also include Progeria syndrome in their curricula to increase awareness and understanding of the condition.