More Quantification of Human Nuclear DNA Mutation Rates

Nuclear DNA is essentially a big complicated molecule, and stuck in the middle of the dynamic environment of the cell it accumulates damage due to reactions with other molecules. Near all of this damage is repaired quickly, but only near all. So we accumulate somewhat random mutations scattered across our cells as we age. There is some debate over whether this is actually a cause of general age-related degeneration over the present human life span versus only a cause of cancer. This paper looks at human mutation rates in the exome, a classification that includes only small fraction of our DNA, but which is thought to encompass most of the important known mutations associated with various diseases. There is thus an energetic community that studies this small part of the genome: The inability of genomic variants to fully explain known or suspected inherited and spontaneous components of a wide variety of diseases may indicate that there may be additional undiscovered factors that complicate analysis. These factors include the number and rapidity with which one accumulates genomic variants, which if known could be compensated for, like ethnicity and sex. Genetic characterization of aging, therefore, may hold a key to questions regarding the importance of acquired somatic variants, variation in aging within a population, and their role in human diseases. Adding time and the accompanying mosaic changes as variables may enhance the accuracy and utility of population-scale analysi...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs