Whole Genome Sequencing of Supercentenarians in Search of Genetic Contributions to Longevity

In this study, we generated and analyzed the first whole genome sequencing data with high coverage (90X) in a cohort of 81 semi-supercentenarians and supercentenarians [105+/110+] (mean age: 106.6 ± 1.6) recruited across the entire Italian peninsula together with a control cohort of 36 healthy geographically matched individuals (Northern, Central, and Southern Italy) (mean age 68.0 ± 5.9). Data recently published with a second independent cohort of 333 centenarians (100+ years) and 358 geographically matched controls (Northern, Central, and Southern Italy) were used to replicate our results. We identified five common variants (rs7456688, rs10257700, rs10279856, rs69685881, and rs7805969), all in the same region located between COA1 gene and STK17A gene. The gene-based analysis of sequencing data identified STK17A gene as the most significant gene that is validated in the second cohort. STK17A is involved in DNA damage response and positive regulation of apoptotic process and regulation of reactive oxygen species (ROS) metabolic process. Moreover, it has been suggested that STK17A can be activated in response to external stimuli such as UV radiation and drugs. Data suggests a possible role of this gene in DNA damage response as the variants associated to an increase of SKT17A expression (in-silico prediction) were found more frequent in 105+/110+ than controls. Researchers have proposed the following sequence of events that occurs during aging: (i) mutation imp...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs