The first time
Taosheng Huang saw the test results, he was sure there’d been a mistake. Even after a technician repeated the diagnostic, Huang didn’t believe it. “That’s impossible,” he said.
Huang, a pediatrician and geneticist at
Cincinnati Children’s Hospital Medical Center, asked the patient to come back and provide fresh samples of blood, which Huang then split among several research labs to reduce any chance of error. It was a finding that Huang knew would break a central tenet of human genetics—but time and time again, the outcome was the same.
Huang’s patient, a four-year-old boy, was carrying two different sets of
mitochondrial DNA: one from his mother, as expected—and another, from his father.
This was only the beginning. Using modern DNA sequencing technology, Huang and his colleagues have conclusively verified paternally-inherited mitochondrial DNA in 17 individuals spanning three unrelated families. Their
work appears today in the journal
PNAS.