About Progeria

Hutchinson - Guildford prematurity syndrome ("premature aging" or "HGPS") is a rare fatal hereditary disorder characterized by accelerated aging of children. That name comes from Greek. There are various forms of premature aging *, but the classic type is Hutchinson - Gilford early disability 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

They seem to be healthy originally, but premature babies begin to show many signs of accelerated aging within the first two years of life. Symptoms of premature aging include growth disorders, body fat and hair reduction, skin aging, joint stiffness, hip dislocation, systemic atherosclerosis, cardiovascular (heart) disease, stroke and so on. The ethnic background is different, but the appearance of the child is very similar. Premature infants die of atherosclerosis (heart disease), and the average age is 14 years old

* Other metabolic syndrome includes Werner's syndrome, also called "premature aging of adults". It did not develop until puberty, its lifespan was divided into 40s and 50s.

Hayley Okines is a famous activist who works hard to raise awareness of premature elderly people. She also developed this disease on her own and wrote many books about living with premature aged "my old age" and "young mind". Many people, including me, I think she is incredibly courageous, moving person. Cells contain substances called nuclei and are often called cellular brains. What is contained in the nucleus is DNA, also called "life code" - like a huge instruction manual. A gene is a DNA fragment (manual page) that carries the instructions necessary to construct protein molecules that are "bricks" of cells.

Mutations in the LMNA gene result 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 that surrounds the nucleus. Mutations leading to Hutchinson - Gilford premature aging syndrome result in the production of abnormal form of Lamin A protein. The altered protein renders the nuclear membrane unstable, gradually hurting the nucleus and makes it easier for cells to die prematurely. Researchers are working to determine how these changes will affect the characteristics of Hutchinson - Guildford Early Aging Syndrome.

Currently available for genetic testing of Hutchinson - Guildford premature aging syndrome also known as HGPS. In the past, doctors had to diagnose only based on physical symptoms, such as skin changes and weight gain. These were not completely revealed until the first year or the second year since the child was born. Currently, this genetic test allows a doctor to diagnose a young child and begin treatment early in the course of the disease. NHGRI researchers and collaborators of the Progeria Research Consortium are now looking for the next steps to understand the cause of this disease and the possible ways to develop new treatments. This study includes the possibility of using existing drugs to create a mouse model of this disease and to prevent or reduce abnormal Lamin A protein production in children with premature aging.