Accelerated Aging Disorder Linked to a Genetic Mutation

A rare disorder that turns children into old people and often causes them to die in their teens has been linked to a single genetic mutation, a finding that may help science learn more about normal aging as well.

The disorder, called Hutchinson-Gilford progeria syndrome, is caused by a single “misspelling” or misplaced DNA molecule within the human genome that contains 3 billion DNA units, said Dr. Francis Collins, head of the National Human Genome Research Institute and the senior author of a report appearing this week in the journal Nature.

Those with progeria appear normal at birth, but by 18 months begin to develop symptoms of accelerated aging. The skin takes on the appearance of the very old, bones become fragile and most of the children are bald by age 4. The children never grow much taller than 3 feet. Their internal organs also quickly age and death is usually caused by heart disease or stroke at an average age of 13.

Even as teenagers, said Dr. W. Ted Brown, the children with progeria will weigh only 30 to 35 pounds.

Children with the disorder, however, tend to have above-average intelligence, said Brown, a co-author who has studied progeria for 20 years at the New York State Institution for Basic Research in Development Disabilities.

Progeria affects about one baby per 4 million to 8 million worldwide.

The disease was first identified in 1886, but Brown said it has been difficult to study because “there are only a handful or so alive at one time.” He said about one patient with progeria is born each year in the United States.

Collins and his co-authors found the mutation on a gene called lamin A in DNA specimens from 18 of 20 progeria patients. A similar study, appearing in the journal Science, found the gene mutation in two progeria patients.

Linking LMNA to aging, said Collins, means that studying the gene “may provide us with a better understanding of what occurs in the body as we all grow older.”

Collins said the disease is not genetically inherited but develops “de novo,” or new, in each patient. He said there is a suggestion that the progeria gene is transferred to the embryo through a flaw in the genes of the father’s sperm.