(Boston) - The first-ever published whole-genome sequences of not just one, but two supercentenarians, aged more than 114 years, reveal that both unusual and common genetic phenomena contribute to the genetic background of extreme human longevity.
Data from the study -- led by researchers from the Boston University Schools of Public Health and Medicine and Boston Medical Center -- will be available to researchers around the world at the NIH data repository.
In the study, published Jan. 3 in the open-access journal Frontiers in Genetics, researchers at BU, the University of Florida, Gainesville, and The Scripps Research Institute report a comprehensive analysis of the whole genome sequences of a man and a woman, both of whom lived past the age of 114. Supercentenarians (age 110+ years) are very rare, occurring at a rate of one person per five million in developed countries, and there is growing evidence supporting a strong genetic influence in survival to such ages.
The study, led by Paola Sebastiani, professor of biostatistics at the BU School of Public Health, shows that the overall genomic architecture of these two subjects is comparable to that of other published full genomes, in terms of rates of novel variants, functional variants, and variants that predispose to common age-related diseases and common cancers. But while the two carried as many disease-associated genes as the general population, their longevity suggests other protective mechanisms at work.
For example, the male subject had 37 genetic mutations associated with increased risk for colon cancer -- indicating that he was in no way immune to that age-related disease. "In fact, he had presented with an obstructing colon cancer earlier in his life that had not metastasized and was cured with surgery. He was in phenomenal cognitive and physical shape near the time of his death," said Dr. Thomas Perls, director of the New England Centenarian Study and senior author o
|Contact: Gina DiGravio|
Boston University Medical Center