Mutation Shown to Extend Life Expectancy

Researchers have identified a beneficial mutation in a gene involved in lipid metabolism that seems to lower the incidence of age-related disease and extends the life span into the 90s or more.

Investigators at Yeshiva University's Albert Einstein College of Medicine (New York, NY, USA) compared a group of 213 Ashkenazi Jewish subjects with exceptional longevity (mean age, 98.2 years) and their offspring (mean age, 68.3 years) to an age-matched control group of Ashkenazi Jews and participants from the Framingham Offspring Study. After completing detailed questionnaires and a physical examination, researchers took blood samples and assessed lipids and lipoprotein subclass levels and particle sizes by proton nuclear magnetic resonance.

The study, published in the October 15, 2003, issue of the Journal of the American Medical Association, revealed that high-density lipoprotein (HDL) and low-density lipoprotein (LDL) particle sizes were significantly higher in the subject group compared with both control groups, independent of plasma levels of HDL and LDL cholesterol and apolipoprotein A1 and B. This phenotype was also typical of the subjects' offspring but not of the age-matched controls. The larger lipoprotein particle size was due to a mutation that modified cholestryl ester transfer protein (CETP), an enzyme involved in regulating lipoproteins and their particle size. Centenarians were three times as likely to have the mutation (24.8% of centenarians vs 8.6% of controls) and the centenarians' offspring were twice as likely to have it.

First author Dr. Nir Barzilai, head of the Institute for Aging Research at Albert Einstein explained, "We think the larger cholesterol particles prevent fats from adhering to the sides of the arteries. Small particles adhere to the arteries much more easily. Our research showed that people with larger particles have a lower incidence of heart attacks, high blood pressure, and metabolic syndrome, a precursor of diabetes. This genetic mutation also appears to be beneficial in warding off Alzheimer's disease. When centenarians are given cognitive tests, those with the mutation always pass the test. Those with the smaller particles do less well on it. This tells us that the gene also protects brain function.”




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Albert Einstein College of Medicine