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Nature's Experiment in Unnatural Aging

Samuel Vaisrub, MD
JAMA. 1973;226(13):1565. doi:10.1001/jama.1973.03230130053020.
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A rare, inborn error of metabolism is frequently referred to as "nature's experiment." By adding experimental touches of his own, the investigator may gain insights not only into the mechanisms of a particular genetic disorder, but also into related physiologic derangements underlying other, more common conditions. We owe much of our knowledge of physiology and pathophysiology to studies of genetic rarities.

One such genetic disease is progeria. Inherited as an autosomal recessive trait, this disease is characterized by precocious senility. The afflicted child with his wizened face, dwarfed stature, and the general appearance of senility usually dies of coronary heart disease during the first or second decade of life. The stamp of senescence is imprinted in various cells by deposits of lipofuchsin, and in the myocardium by focal fibrosis. Can this disorder, which telescopes a life-span into the brief period of a dozen or so years, shed some light on


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