what is progeria syndrome

what is progeria syndrome

1 year ago 69
Nature

Progeria, also known as Hutchinson-Gilford progeria syndrome, is an extremely rare genetic disorder that causes children to age rapidly, starting in their first year of life. It is caused by a mutation in the LMNA gene that codes for the lamin A protein, which is needed to hold the center of a cell, called the nucleus, together. When the LMNA gene has a change, a flawed lamin A protein called progerin is made. Symptoms of this progressive disorder cause a distinctive appearance, including balding, wrinkled skin, and a small face and jaw relative to the head size. Children with progeria usually develop a condition called atherosclerosis, which hardens and slows blood flow from blood vessels that carry nutrients and oxygen to the body. Most children with progeria die of heart attacks and strokes related to atherosclerosis. There is no cure for progeria, but new treatments and research show some promise for managing symptoms and complications. A drug called lonafarnib has been shown to slow down the progression of the disease.

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