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Bone Voyage

The Louisiana Osteoporosis Study aims to shed light on a complex disease.



Jessica, a 29-year-old nurse, was interested in participating in the Louisiana Osteoporosis Study the moment she saw its flyer in a Metairie coffee shop.

  "I was pretty sure osteoporosis (low bone mass) ran in my family," she says. "Being a nurse, having more information about my health is something I'm interested in."

  Jessica (who asked that her last name not be used) signed up to participate in the research study, which is sponsored by Tulane University and will identify genetic and environmental factors of osteoporosis. She underwent a blood draw and a bone scan in a process that took about half an hour. As a slender Caucasian woman with a family history of osteoporosis, Jessica knew she had several risk factors, but her results still surprised her.

  "When (the women conducting the study) saw my results, they were both like, 'Oh, this is surprising. This is bad,'" Jessica says.

  It turned out she has osteoporosis. "I was like, 'What should I do? How bad is this?'" Jessica says. "And they said, 'Well, you should see a doctor.'"

  Dr. Alan Burshell, an endocrinologist and section head at Ochsner Medical Center, says osteoporosis is a complex disease, especially when it is diagnosed in young people. "All the data and info (involved in a diagnosis of osteoporosis) is based on women who are post-menopausal," he says. "The meaning of bone mineral density (BMD) in a person who is pre-menopausal is less well-defined."

  BMD increases throughout childhood and peaks at age 20, says Dr. Yongjun Liu, a genetic epidemiologist who is facilitating the study. "BMD stays stable until age 50, then decreases gradually in men and sharply in women," he says. "Without the protection of estrogen, (post-menopausal) women have a dramatically decreased BMD."

  For this reason, Burshell recommends his patients wait until menopause to evaluate their BMD, except in cases where there's a strong family history of severe osteoporosis, a history of fractures, premature menopause, or a history of steroid use or anorexia, both of which damage bones.

  "If a women has estrogen around and is not fracturing, we don't know if treatment (with medication) would be worthwhile," Burshell says. "(Osteoporosis) is complex, and that complexity allows us to develop treatments for individual patients based on what is happening to them. This study is very important, because we have a lot of holes in our knowledge. They're looking at some of these complex issues."

  The study aims to recruit 20,000 male and female adults from all ethnic groups. "We'll measure the BMD of each subject, collect blood samples for DNA extraction, and ... use their DNA for whole-genome genotyping," Liu says. "We're trying to find a sequence variance that may contribute to this disease. Once we find it, we may work with others, like pharmaceutical companies, to develop diagnostics which can be used to see who's at a high risk for osteoporosis. I'll probably design some medications to treat this disease."

  Unlike muscular dystrophy or cystic fibrosis, diseases caused by a mutation in one gene, there are at least 100 genes that contribute to osteoporosis, Liu says. "There are so many small fish," he says. "We have to recruit a lot of human samples to find those small fish."

  Participants benefit by receiving a dual energy X-ray absorptiometry (DXA) bone scan and a report that includes information about bone density and body composition, as well as a $25 gift card.

  "The immediate benefit is you'll know whether your BMD is good or not," Liu says.

  Even if the news is not good, as in Jessica's case, it allows participants to make more informed choices about their health.

  "Now that I have this information at my age, I want to be proactive about it," says Jessica, who plans to take nutritional supplements and do weight-bearing exercises to improve her bone health. "More information is never going to hurt you. Everybody should have as much information about their own health as they possibly can. And when it's on a research basis and you get it for free, that's a win-win."

For more information about the Louisiana Osteoporosis Study, visit www.sph.tulane.edu/publichealth/bio/clinical-recruitment.cfm, email bonestudyneworleans@tulane.edu or call 988-1056.

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