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The researchers' discovery of a
By Helen Altonn
rare gene mutation could lead to
fewer deaths from heart disease
Star-BulletinMutations that cause a rare genetic disorder have been discovered by an international research team led by a laboratory at the University of Hawaii.
The finding could lead to fewer deaths from heart disease -- not only among those afflicted with the genetic disorder but in the general population, Charles Boyd, the research leader, said today.
"We're fairly sure, although we have yet to accumulate all the evidence, that the gene mutations are going to be present in the general population.
"I hope we'll be able to apply this information to better understanding genetic risk profiles of cardiovascular disease, particularly in groups at risk," Boyd added. "Cardiovascular disease is a big concern in native Hawaiians."
Boyd directs the Laboratory of Matrix Pathobiology in the UH Pacific Biomedical Research Center. The lab studies diseases affecting the matrix -- materials that exist between cells and hold them together.
The UH team's discovery of gene mutations responsible for pseudoxanthoma elasticum, or PXE, was reported in the journal Nature Genetics, published yesterday. The discovery builds on work done by a Harvard group to decode genes as part of the Human Genome Project.Olivier Le Saux, UH postdoctoral researcher in Boyd's lab, is first author on the paper. Other collaborators include faculty members Katalin Csiszar and Zsolt Urban and visiting German undergraduates Cordula Tschuch and Karina Treiber. They worked with investigators from England, Belgium and Italy.
Boyd said PXE occurs in about one in 25,000 births. It can have devastating effects, including: premature hardening of the arteries and gastro-intestinal bleeding from ruptured blood vessels, blindness and skin lesions .
A rash of yellow papules on the skin marks the start of PXE. As it advances, the skin sags and wrinkles, giving a premature aging appearance.
Little was known about PXE in December 1994 when a Massachusetts parent, Sharon Terry, noticed a persistent rash on her 6-year-old daughter's neck.
A dermatologist identified it as "pseudoxanthoma elasticum" and noticed that the woman's 4-year-old son also had it.
Terry, her husband, Patrick, and children, Elizabeth and Ian, were at UH today for an announcement of the UH group's discovery.
"Sharon is the driving force behind the focus to find the gene and now, as we expand the work ... how changes in mutations in the gene cause disease," Boyd said.
It is possible now to screen for the disorder and intervene to lessen the impact while patients are young, he said.
Boyd said the Terrys' involvement is an unprecedented model for cooperation between scientists and lay people.
He met Sharon Terry and began doing genetic screening while at the University of Medicine and Dentistry in New Jersey. Through Terry, he began collecting patient material and obtained a research grant from the National Institutes of Health.
Boyd and his team moved to UH four years ago under a Research Centers in Minority Institutions grant. "This gave us an opportunity to expand the lab and focus a lot more on cardiovascular research," he said.
Sharon Terry continued to work with the UH researchers. She has a masters degree in religious studies and her husband manages a construction company. Neither knew anything about medicine, but have become "citizen scientists," Boyd said.
He said Sharon Terry "has been much involved in driving the whole operation. She collects patients and gets involved in epidemiology studies." She founded PXE International to raise funds, establish a patient registry and work with groups to hunt for the PXE gene.
Terry said she has collected 2,000 names worldwide of people with the disease, including Hawaiian families.
She is vice president of Genetic Alliance, an international coalition of lay advocacy groups for genetic diseases, and president-elect of the Coalition of Heritable Disorders of Connective Tissues.
She said her children have a remarkable understanding of genetics and PXE and speak to groups.
But this is their first trip to Hawaii and they have other things on their mind. "They're desperate to snorkel," their mother said. "That's on the agenda for tomorrow."
Ka Leo O Hawaii
