Single Genetic Defect Links Many Risk Factors For Heart Disease And Stroke

A single change in a person’s DNA can contribute to a range of life-shortening risk factors, including high blood pressure, high cholesterol, and other metabolic disorders. A woman with hypertension, low magnesium levels, and a cooperative family allowed scientists to pinpoint the mutation, which affects the genes of the mitochondria — the energy-producing power plants of the cell that are passed from mother to offspring. The researchers, led by Howard Hughes Medical Institute investigator Richard P. Lifton, who is at Yale University School of Medicine, published their findings October 22, 2004, in Science Express, an online component of the journal Science. Gerald I. Shulman, another HHMI investigator at the Yale School of Medicine, was also an author on the paper. The researchers are hopeful their discovery could help unravel the complex genetic and environmental factors that cause a range of metabolic disorders.