For the first time, researchers have demonstrated that a single change in a persons DNA can contribute to a range of life-shortening risk factors, including high blood pressure, high cholesterol, and other metabolic disorders.
The mutation affects the genes of the mitochondria – the energy-producing power plants of the cell that are passed from mother to offspring. The researchers are hopeful their discovery could help unravel the complex genetic and environmental factors that cause a range of metabolic disorders.
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. "Epidemiological studies over the last twenty years have shown that hypertension, high cholesterol, high triglycerides, low magnesium, diabetes, insulin resistance, and obesity tend to cluster with one another, but not in a simple way," said Lifton. "Not everybody who has any one of these traits has all of the others. The pattern of inheritance is complicated, and there hasnt been a clear understanding of whats driving this relationship."
Jennifer Michalowski | EurekAlert!
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