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Two rare and related diseases leave their sufferers with no fingerprints. Now scientists may have cracked the genetic code behind the inherited ailments.
Researchers at the Technion-Israel Institute of Technology in Haifa and Thomas Jefferson University in Philadelphia report that defects in the protein keratin 14 may be responsible for both diseases, known as Naegeli syndrome and dermatopathia pigmentosa reticularis (DPR).
The lack of fingerprints can cause vexing social problems, which are magnified because few people have heard of the condition.
Cheryl Maynard of Fairfax, Virginia, is part of the fifth generation of her family to have inherited DPR from her mother's side.
"My father was in the military and he had top-secret clearances," she recalled.
"We moved a lot, and everywhere we went they'd say, What do you mean your wife doesn't have fingerprints? What do you mean that you have kids without fingerprints?"
Maynard has personally experienced many fingerprint-related snafus, often related to employment.
She works as a flight attendant and noted that a standard background check by the U.S. Federal Aviation Administration, which took about 2 weeks for most of her peers, took 14 weeks in her case.
"I applied for work at a jail facility, and they were naturally fingerprinting people who were going to be employees," she said.
"I kept hearing, Of course you have fingerprints. And five or six different technicians were telling one another, You're doing this wrong, let me do this. I have to tell them I was born without them."
"Things like that are a problem," Maynard said. "It has delayed me [from] getting jobs."
For the handful of people without fingerprints the physical impacts are few.
Maynard has normal feeling in her fingers, though the lack of fingerprints deprives her of some grip, which makes dealing cards or turning pages more difficult.
But the lack of fingerprints is not the diseases' only, or even most serious, impact.
Patients also experience thickening of their palms and soles of their feet. They suffer from anomalies in the development of their teeth, hair, and skin, where pigmentation can appear patchy and uneven.
Most dangerously, they have skin issues that can inhibit their ability to sweat normally.
"That's the only really serious manifestation as far as potential harm," said professor Eli Sprecher of the Technion-Israel Institute. Sprecher is co-author of the study that discusses the conditions in the October issue of the American Journal of Human Genetics.
"Because they cannot evacuate heat, they can develop heat stroke."
Maynard added that this problem has always made sports a trial.
"I swam competitively as a kid, but some parents would always ask why I was sitting on the side of the pool. My mom would have to tell them, Even though the water is cold, she's overheated from swimming."
As an adult Maynard is careful to stay hydrated, keep ice packs handy, and use air conditioning for most of the year.
Unfortunately for those who suffer such ailments, a cure is not at hand.
But the protein culprit, first identified by Technion graduate student Jennie Lugassy, could be the clue to cracking more common and dangerous diseases.
According to Gabriele Richard, study co-author and geneticist at Thomas Jefferson University, "apparently keratin 14 is very important for developing skin in the fetus and creating the fingerprints."
(See an overview of human genetics.)
Researchers are also pondering the protein's connection with programmed cell death—information that could someday help with many skin disorders.
Programmed cell death, a form of cellular suicide, is the way that cells typically expire when the useful phase of their existence is complete. The process is often disabled in cancer cells, allowing them to live and proliferate.
"It looks as if the disease is associated with the inability of the cell to produce normal levels of keratin 14," Sprecher said.
"It would be interesting to determine if keratin 14 has a role in cell death."
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Brian Handwerk for National Geographic News
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