DES MOINES, Iowa (AP) - An Iowa family that took part in research that helped identify a gene linked directly to heart attacks has gone public.
Don Steffensen, 74, a retired pharmacist from Johnston, said he told researchers about his family in hopes they could find a way to stem the deadly heart attacks that had plagued the family for decades.
The research helped doctors identify a gene, called MEF2A, which plays a role in protecting the artery walls from plaque buildup that can impeded blood flow and lead to heart attacks, said Dr. Eric J. Topol of the Cleveland Clinic, head of the research team. A report appeared in last month's issue of the journal Science.
Steffensen became involved after his wife, Barbara, overheard a conversation at the Cleveland Clinic, a renowned Ohio medical center where Steffensen was having his pacemaker checked. She heard a doctor and researcher talking about the possibility that bad genes could cause heart attacks.
Barbara Steffensen told her husband about the conversation and urged him to pipe up about his family's tragic experience. So he did.
He told the doctors about his father, Art, who had a heart attack at 46 while driving home from a church banquet in Buffalo Center.
"By the time they got him to the hospital, he was dead," Don Steffensen said.
He told the doctors about his three brothers and two sisters who'd had heart attacks. And he told them about how his own heart gave out while he was duck hunting near Shenandoah in 1992. Rescuers flew him by helicopter to an Omaha, Neb., hospital, where he nearly died.
"It was really touch and go," he said. "But I made it. I guess the good Lord was saving me for something better."
In an earlier interview, Topol said that his team analyzed the genes of about 100 members of Steffensen's family. They found those members with heart disease had the MEF2A gene that lacked some key bits of DNA. This apparently causes the arteries to thicken and become clogged.
Several young adults in the family have learned that they have the gene. They've been told that they must exercise religiously, watch their diets closely and have regular medical testing to stave off early death.
Don Steffensen said he's still shaking his head at how far the researchers took his family's tale.
"It's just amazing what they can come up with," he said.
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Science: www.sciencemag.org
