DNA change could lead to life-shortening risk factors, Study

DNA change could lead to life-shortening risk factors, Study:

ANI | Oct 22 2004

Researchers have demonstrated that any 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.

The mutation affects the genes of the mitochondria which is 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 hasn't been a clear understanding of what's driving this relationship."

Such a pattern immediately suggested a defect in the mitochondrial genome, because those genes are uniquely passed from mother to offspring, unlike the rest of the cell's genome, which is contained in the nucleus.

Once the researchers determined that a mitochondrial defect caused diverse traits, like an increased prevalence of hearing loss, migraine headaches, and weakened heart muscle, which are all known to be associated with genetic mutations in mitochondria.

The discovery of the genetic defect could open new avenues for basic research and treatment and could help explain why problems such as hypertension increase with age. The mutation could, for example, link hypertension to the age-related decline in mitochondrial function.

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