Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare genetic disorder that affects the process of aging. It is caused by a mutation in the LMNA gene, which leads to the production of an abnormal protein called progerin. Progerin disrupts the normal functioning of cells and tissues in various organs, leading to the characteristic features and health problems associated with progeria.
The organs most commonly affected by progeria include:
- Cardiovascular system: Progeria primarily affects the cardiovascular system. It causes accelerated aging of blood vessels, leading to cardiovascular complications such as atherosclerosis (hardening and narrowing of arteries), heart disease, and stroke.
- Musculoskeletal system: Progeria affects the musculoskeletal system, resulting in short stature, joint stiffness, limited range of motion, and fragile bones. Children with progeria often experience skeletal abnormalities and have a distinctive appearance with a small, underdeveloped jaw and a pinched nose.
- Skin: Progeria affects the skin, causing it to become thin, tight, and wrinkled. Affected individuals may have visible veins, prominent scalp veins, and a loss of subcutaneous fat.
- Eyes: Progeria can affect the eyes, leading to various problems such as vision loss, cataracts, and corneal thinning.
- Gastrointestinal system: Progeria can impact the gastrointestinal system, causing difficulties with digestion and absorption of nutrients.
It’s important to note that progeria is a multi-system disorder, and while these are the commonly affected organs, other systems may also be affected to some degree. The severity and specific manifestations can vary among individuals with progeria. It’s a complex condition that requires specialized medical management and support.
