Discovery of Rare Baldness Gene Raises Hope of Finding a Cure

Scientists have discovered a gene that causes a rare and extreme form of hair loss, a finding that they say could one day point to better remedies for common hereditary baldness.

Researchers found the gene--appropriately named “hairless”--by studying a Pakistani family plagued for generations by an inherited form of alopecia universalis. Sufferers are born without eyelashes or eyebrows, quickly lose the hair on top of the head and never grow any body hair.

It’s a far cry from the more common male-pattern baldness.

But because the hairless gene regulates the same hair follicles, and appears to switch on other hair-related genes, it provides a vital clue to understanding hair growth and loss, said lead researcher Angela Christiano of Columbia University.

“We’re hoping this will lead us to the next gene and the next,” said Christiano, a dermatology professor who has begun experiments to uncover exactly how the hairless gene works.

“This is sort of like getting your foot in the door,” said Dr. David Valle, a medical geneticist and pediatrician at Johns Hopkins University, who praised the study, which is being published today in the journal Science.

“We don’t know too much about the hair follicle,” said Valle, whose patients include several teenage girls with similar severe baldness. “It’s a chance to begin to understand the role of the genes in controlling and regulating the function of the hair follicle.”

There are several forms of hereditary hair loss, but scientists until now had been unable to find any of the genes that are responsible.

Scientists already had discovered that knocking out the so-called hairless gene in mice let them breed bare rodents. Theorizing that the gene was a possible human culprit, Christiano used gene cloning techniques to investigate a database of healthy human DNA and discovered the human version of the hairless gene.

But the question was whether the hairless gene was active in people. First, Christiano discovered that it resides in that same region of Chromosome 8 implicated in the Pakistani family.

Then a closer look at the family’s genes showed that all the bald relatives had a single mutation that she couldn’t find in 150 healthy people. If the hairless gene is mutated so that it doesn’t make a certain protein, hair follicles can’t form, Christiano concluded.

Scientists believe hair growth is “regulated like a clock and needs to pass through certain checkpoints before a new hair can grow,” she said. “We’re hoping this is the first checkpoint.”

If so, then following the hairless gene’s trail as it makes proteins that switch on other genes could uncover where milder forms of baldness originate, and possible therapies.