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Medical News & Perspectives
May 21, 2003

Cause of Progeria's Premature Aging Found

JAMA. 2003;289(19):2481-2482. doi:10.1001/jama.289.19.2481

John Tacket is an extremely rare teenager, although his list of hobbies, including billiards and drumming, is completely normal. For one thing, he appears happy and well-adjusted. Even more unusual, though, is that at 15 years, Tacket has already exceeded his predicted life expectancy by about two years. His body, from the cellular level on up, is aging far too quickly. The cause: Hutchinson-Gilford progeria syndrome, a rare genetic disorder.

Research spearheaded by parents of another child with progeria has now pinpointed the origin of Tacket's premature aging: a single nucleotide error in the single sperm that (in combination with an ovum) produced him. The DNA misspelling occurs in a linchpin gene, LMNA, which codes for the molecular scaffolding that stiffens the nucleus of all cells (published on April 25 in the online edition of Nature [http://www.nature.com]) .