Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare genetic disorder that causes accelerated aging in children. The primary cause of progeria is a mutation in the LMNA gene, which provides instructions for producing the lamin A protein. This mutation leads to the production of an abnormal form of lamin A called progerin.
Progerin accumulates in the cell nuclei and disrupts the normal functioning of the nuclear envelope, which plays a crucial role in maintaining the structure and stability of the cell nucleus. The accumulation of progerin causes various cellular defects, including DNA damage, altered gene expression, and impaired cell division.
The exact mechanism by which progerin accumulation leads to the characteristic features of progeria is still not completely understood. However, it is believed that the defective nuclear envelope function contributes to the premature aging process observed in affected individuals.
Progeria is typically sporadic, meaning it occurs randomly and is not inherited from the parents. However, in some cases, it can be inherited in an autosomal dominant manner, with a mutation in the LMNA gene being passed from an affected parent to their child.
It is important to note that progeria is a rare genetic condition, and most cases occur sporadically without a family history of the disorder.
