What Is Progeria Disorder?
PROGERIA is a sporadic Autosomal Dominant Genetic disorder medically named as HUTCHINSON-GILFORD PROGERIA SYNDROME or PROGERIA. It is an extremely rare disease that affects 1 in 8 million newborns. This disorder is sporadic and fatal, resulting in the acceleration of aging in patients. It reduces the average life span of the patient up to only 13 years. The cardiovascular system’s rapid aging causes death due to heart attack or stroke in patients by their mid-teens.
A tiny point Mutations cause Progeria in the Lamin A gene, responsible for fabricating structural proteins that help keep the cell nucleus sturdy and the genome intact. The mutated Lamin A protein “Progerin” destabilizes the cell nucleus, causes DNA damage, and ultimately leads to Progeria’s aging effects. The researchers have delved deeper to know how Progerin wreaks damage at the molecular level. They recently discovered that the Progerin damages DNA by hindering replication. This stress is sensed by special proteins like cGAS and STING that activate a type of immune response that leads to cellular decline.
Interestingly, this response is activated without the release of inflammatory molecules like Interferons that typically trigger the immune system. That appears to confirm that Progeria’s aging effects are, genetically speaking, an inside job. The most disruptive defect caused by Progeria was the displacement of the protein CENP-F. This protein enables cellular machinery to pool chromosomes apart during cell division, but in the presence of Progerin, the protein is dislodged, causing vital chromosome material to lag behind. This interference could tie Progerin on to the genetic instability observed in patients with Progeria.
This disorder reflects on the patient’s physical appearance. Commonly, the patient has the symptoms of baldness, pinched nose, small & wrinkled face, large head for the size of the face, loss of eyebrows and eyelashes, and bulging eyes. The patient also shows symptoms like prominent scalp veins, delayed tooth formation, loss of muscles, and body fat. Wrinkled, scary, and dry skin is also observed. Progeria patient has to deal with a short structure and a high pitched voice as one of the symptoms. Essential indications giving the hint of Progeria are progressive cardiovascular disease, advanced atherosclerosis, and stiffness in joints.
How dangerous is it for kids and parents? Unfortunately, there are no such treatments that can cure Progeria. In this condition, the patient has no time to recover from the disorder, which creates a painful sight for parents making them helpless. The sufferers demand utmost care from their parents or caretakers as they tend to be dependent on them due to challenging physical appearance.
According to the Progeria Research Foundation, there are currently about 161 known cases in the world. However, the Progeria Research Foundation believes that there can be nearly 150 undiagnosed cases worldwide. From the acknowledged undiagnosed cases worldwide, 60 plus cases are in India. Although the Progeria patients hold a short life span, few notable cases like Leon Botha, South African hip hop artists, and Nihal Bitla from India survived until the age of 26 and 15.