Hutchinson Gilford Progeria Syndrome

Hutchinson - Gilford Early Deficiency Syndrome (HGPS) is a rare, deadly hereditary disorder characterized by early rapid aging. It is caused by repetitive bilateral mutations in Lamin A in which a change from glycine GGC to glycine GGT is present in exon 11 of codon 608 of nucleotide A (LMNA) gene (Eriksson et al. 2003). This mutation results in a truncated splicing mutant of lamin A called progerin. Accumulation of progerin causes nuclear deficits associated with various senescence, including nuclear disruption, nuclear export destruction, heterochromatin loss, DNA damage, loss of repair efficiency, and premature aging (Liu, 2005).

Hutchinson - Gilford Early Deficiency Syndrome ("premature aging" or "HGPS") is a rare, fatal genetic disorder characterized by accelerated aging of children. That name comes from Greek, meaning "premature". Although premature aging * has various forms, the classic type is Hutchinson - Gilford premature syndrome named after a doctor who first explained it in the UK. HGPS is caused by a mutation in the gene called LMNA (pronounced Lamin a). The LMNA gene produces Lamin A protein, a structural scaffold that holds the nucleus together. Researchers now believe that defective lamin A protein will destabilize the nucleus. Cell instability seems to lead to a premature aging process

Mutation of the LMNA gene results in Hutchinson-Guildford premature aging syndrome. The LMNA gene provides an illustration of the production of a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within the cell. It is the basic scaffolding (supporting) component of the nuclear membrane, which is the membrane surrounding the nuclear membrane. A mutation leading to Hutchinson - Gilford premature aging syndrome results in the production of abnormal form of Lamin A protein. The altered protein renders the nuclear membrane unstable, gradually hurting the nucleus and making it easier for cells to die prematurely. Researchers are working to determine how these changes will lead to the characteristics of Hutchinson - Guildford Early Aging Syndrome

Hutchinson - Guildford Premature infant syndrome is a hereditary disorder characterized by severe rapid aging from childhood. Infected children usually look normal at birth or early in infancy but then grow more slowly than other children and do not grow at the expected rate (can not prosper). They have a unique face-like appearance, such as conspicuous eyes, thin nose with sharp nose, thin lips, small jaws, protruding ears. Hutchinson - Guildford Early Aging Syndrome can also cause hair loss (hair loss), aging skin, joint abnormalities and a decrease in subcutaneous fat (subcutaneous fat). Such a situation does not affect mental development, development of athletic ability such as sitting, standing, walking.