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How “Syndrome X” May Shed Light on Biological Immortality

Who wants to live forever?
8-year-old Gabby Williams. TLC video screenshot via Good Morning America.

Gabby Williams of Billings, Montana, is 8 years old, but weighs only 11 pounds. Mentally and physically, she is much more like an 8-month-old, bearing little resemblance to children who share her birth year of 2004. Her condition is so rare that doctors haven't even gotten around to naming it, so it's commonly known by its placeholder title, “Syndrome X.” Only about a half dozen people are affected by the disorder, including 20-year-old Brooke Greenberg of Baltimore, who still looks and acts like a preschooler, and 43-year-old Australian Nicky Freeman, who looks like a 10-year-old boy.

Dr. Richard Walker of St. Petersburg, Florida has studied these three cases, and hopes to unearth Syndrome X's genetic blueprints. Identifying which genes have staved off the aging process in each patient has obvious appeal. Mimicking the process artificially could vastly enhance human longevity and quality of life.

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“If we could identify the gene and then at young adulthood, we could silence the expression of developmental inertial—find an off-switch. When you do that, there is perfect homeostasis and you are biologically immortal,” Walker said.

80-year-olds could walk around sporting 18-year-old bodies. Beer guts and gray hair would be a thing of the past. Parents might genuinely be mistaken for siblings. But we're not there yet. Indeed, the three patients Walker has identified may have similar symptoms, but different disorders. For example, he suspects that abnormalities with the second female X chromosome are correlated with Syndrome X. That might explain arrested development in females, but it wouldn't shed much light on Freeman's condition.

Greenberg remains the most thoroughly studied of all the Syndrome X patients. In many ways, her case is also the most astounding, because she shows no sign of genetic abnormality. Greenberg's telomeres correlate with her real age and her second X chromosome is not damaged.

Walker thinks that in her case, the culprit is much more complex: her central control genes. Greenberg is aging slowly, yes, but also out of order. Some parts of her body grow at different rates to others, “as if they were not a unit, but parts of separate organisms,” he says. Her brain is infantile, but her teeth resemble those of an average 8-year-old, and her bones have aged to around 10.

Clearly, several of her regulatory genes are misfiring, and every one of them needs to be identified and tested before we can hope to go all “fountain of youth” on an adult. That puts Walker in the same category as countless other scientists hoping to hack the body's genetic circuits and rewire them for longevity. Whether the answer will lie in rejiggered telomeres or Syndrome X, we hope someone gets to it soon. It would be really irritating to be part of the last generation to grow old.