sexta-feira, 31 de agosto de 2012

Progeria


Progeria comes from a single small defect in the baby's genetic code, but it leads to dire effects for the child's life that usually does not reach the age of 13. Since its earliest days their bodies super-accelerate the aging process because of a defect in the tips (telomeres) that hold the DNA strands together in the cell nucleus. They suffer symptoms including baldness, cardiac disease, osteoporosis and arthritis. The disease is very rare affecting only one in eight million births.
What is it?
The Hutchinson-Gilford syndrome, better known as Progeria is a rare genetic disease characterized by the acceleration of the aging process, which appears usually in children. Its name originates from the Greek and means "prematurely old age." Although there are different types of Progeria, the classic case is the Hutchinson-Gilford syndrome, a combination of the names of the first doctors diagnosed the disease in England: Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilgord in 1897.
The Progeria is caused by a mutation in LMNA, which produces the protein lamin A, the structure that connects and maintains the cell nucleus concentrated. Researchers in this field believe that this defect in Lamin The cause instability in the cell nucleus, which may accelerate the aging of the organism prematurely.
Although born seemingly healthy, children with Progeria begin gradually introduce features of aging between 18 and 24 months old. Signs of the disease are: cessation of growth, loss of body weight and hair, skin-like elderly, hip dislocation, joint stiffness, generalized arthritis, cardiovascular disease and failure. Children with Progeria have a very similar appearance regardless of nationality, and have a life expectancy of 13 years, ranging between 8 and 21 years.
Another type of Progeria is Werner syndrome, also known as "adult progeria" which does not appear until the late teens, with a life expectancy of between 40 and 50 years.

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