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Disorders of Accelerated Aging

by Richard W. Besdine, MD

Certain disorders have the some of the same effects as aging. Scientists study what happens in these disorders to try to learn what causes aging. For example, they identify the genes that are defective in these disorders and compare them with the same genes in older people.

Progeroid Syndromes

Progeroid syndromes are rare disorders that cause premature aging and shorten life expectancy.

In progeroid syndromes, the aging process is greatly accelerated. Affected children develop all of the external signs of old age, including baldness, hunched posture, and dry, inelastic, and wrinkled skin. However, in contrast to normal aging, the ovaries or testes are inactive, resulting in sterility. Females have no menstrual periods. Affected children are unusually short. Thus, progeroid syndromes are not an exact model of accelerated aging.

There are several progeroid syndromes. In Hutchinson-Gilford syndrome and Werner syndrome, the central nervous system and therefore the ability to do many daily activities are largely unaffected unless a stroke occurs.

Hutchinson-Gilford syndrome (progeria)

This syndrome begins in early childhood. It is caused by a genetic abnormality but is usually not inherited. That is, the genetic abnormality (mutation) occurs on its own. It causes inelastic and wrinkled skin, baldness, and other problems usually associated with aging (such as disorders of the heart, kidneys, and lungs and osteoporosis). The body does not grow normally and thus appears too small for the head. Most children die in their teens. The cause is usually a heart attack or stroke. The mutation that causes this disorder has been identified, and a clinical trial of an inhibitor of the faulty gene has had encouraging results.

Werner syndrome

This hereditary syndrome begins in adolescence or early adult life. It causes inelastic and wrinkled skin, baldness, and problems associated with aging, including atherosclerosis, cataracts, diabetes, osteoporosis, cataracts, muscle wasting, and cancer (including some types that are rare in other people).

Down Syndrome

Down syndrome is much more common than progeroid syndromes (see see Down Syndrome (Trisomy 21). It also causes problems typical of old age in younger adults:

  • Glucose intolerance

  • Blood vessel disorders

  • Cancer

  • Hair loss

  • Degenerative bone disease

  • Premature death

In contrast to progeroid syndromes, Down syndrome greatly impairs the central nervous system. It usually causes intellectual disability and, later in life, symptoms of Alzheimer disease (see see Alzheimer Disease : Symptoms). Also, brain tissue, obtained during an autopsy and examined under a microscope, has the same type of degeneration that is seen in people with Alzheimer disease.