Scientists say they are unraveling a longstanding mystery of how a rare syndrome causes its victims to die in their early teens, apparently of old age.
The answer could do more than help those children, researchers say. It could also lead to a better understanding of how normal aging happens, and what if anything one could do to stop it.
An estimated one in 8 million children are born with the condition, called Hutchinson-Gilford Progeria Syndrome. They start life in apparent good health but by six to 18 months develop signs of premature aging, including hair loss, stiff joints, osteoporosis and atherosclerosis. Typically, they die by 13, finished by heart attacks or strokes.
No effective treatments are known, although scientists reported last September that a drug currently being tested against cancer might help the patients.
The cause of the condition, too, remains unknown. But researchers reported one breakthrough in 2003. They traced the condition to a spontaneous mutation in a gene encoding a component of the cell nucleus, the compartment of a cell that stores our genes.
The nucleus must keep this DNA safe but accessible inside a strong protective envelope. Tough but adaptable molecules called lamins line the inner membrane of this envelope. The progeria mutation causes a defect in one type of lamin, called nuclear lamin A, causing cells to age rapidly.
This left researchers asking: what is it about this defect that causes cells to age so rapidly? And might it have some relevance to normal aging? In other words, is progeria a warp-speed version of normal aging?
In research presented Tuesday at the Annual Meeting of the American Society for Cell Biology in San Francisco, Robert Goldman and collaborators at Northwestern University and elsewhere said they’ve made some headway into the first question at least.
Tag : Health.