Girls who never grow up offer clues for aging research

Credit: Flickr/storyvillegirl
Credit: Flickr/storyvillegirl

Some people get botox. Some learn to love their laugh lines. Some people go on dramatic calorie-restricted diets to prolong life. Some eat chocolate and drink scotch everyday. While we are able to choose how we deal with the aging process, humans, alongside everything else alive on the planet, can’t avoid it.

But, scientists have found a handful of girls who never seem to age. In fact, they never seem to develop at all. They are perpetual babies. The frontal lobes of their brains remain smooth, never wrinkling or folding. They never speak, never walk. Some may never see. They never gain weight or go through puberty. One girl’s father described her as the fountain of youth in the flesh.

Virginia Hughes, in a must-read at Mosaic Science, describes these girls’ condition, called Syndrome X, and the scientists who work to uncover the genetic basis of the condition in the hopes that they might identify genes that control the aging process for the rest of us:

Richard Walker, an aging specialist, has identified four girls with this condition, marked by what seems to be a permanent state of infancy, a dramatic developmental arrest. He suspects that the disease is caused by a glitch somewhere in the girls’ DNA. His quest for immortality depends on finding it.

But the condition that effects these girls isn’t just a matter of never aging. In fact, Hughes points out, it’s more a developmental mismatch within the body:

Walker’s analysis found that Brooke’s organs and tissues were developing at different rates. Her mental age, according to standardised tests, was between one and eight months. Her teeth appeared to be eight years old; her bones, ten years. She had lost all of her baby fat, and her hair and nails grew normally, but she had not reached puberty. Her telomeres were considerably shorter than those of healthy teenagers, suggesting that her cells were aging at an accelerated rate.

That paints a much more complicated picture of the syndrome than can be explained by halted aging alone. Some scientists have hypothesized that the real culprit is a short circuit in the body’s aging control mechanisms. Some part of an important gene or set of genes has been mutated so that development does not happen in a fluid life to death fashion throughout the whole body. Rather, these girls develop in fits and starts, and at disparate rates in different parts of their body. However, that doesn’t make the faulty genes in syndrome X less appealing to aging researchers:

Most researchers agree that finding out the genes behind syndrome X is a worthwhile scientific endeavour, as these genes will no doubt be relevant to our understanding of development. They’re far less convinced, though, that the girls’ condition has anything to do with ageing. “It’s a tenuous interpretation to think that this is going to be relevant to ageing,” Gems says. It’s not likely that these girls will even make it to adulthood, he says, let alone old age.

But most people wouldn’t want to live forever, especially given that pure longevity cannot take away the threat of illness and pain. A longer quality of life is preferred to an infinite one:

The ideal outcome of these drugs, though, will not be an infinitely long life, but rather an increase in “health span”, or the number of years we have before age-related disease begins. “My guess is that they would work at the level of 15 per cent increase in lifespan and a few decades’ increase in health span,” says Matt Kaeberlein a molecular biologist at the University of Washington in Seattle. The best-case scenario, he speculates, is that “we live to 120 but don’t start to get sick until 110”.

Source: Arrested Development, Virginia Hughes, Mosaic Science

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