Investigation of epigenetic modifiers in ALS

We usually count age as the number of years since birth, but emerging evidence shows that the biological age of our cells may differ from chronological age. DNA can be altered by gene mutations or by environmental factors that leave marks on DNA without changing its underlying structure. in a process called DNA methylation. By measuring the accumulation of these marks over time in DNA from blood samples scientists can calculate DNA methylation levels, or the individual’s DNA methylation age, which may be the most accurate way to estimate their biological age.

Dr. Rogaeva’s work will determine whether DNA methylation age can help to explain why the onset of sporadic ALS, the most common form of the disease, can occur so differently in different people. Using clinical data and blood samples collected at diagnosis from 250 people with sporadic ALS, Dr. Rogaeva will analyze the clinical characteristics of ALS and DNA methylation levels in order to determine whether accelerated biological age is correlated with the disease. If an accelerated biological age is found in these samples, she will then validate her findings by conducting the same analysis using the thousands of whole genome sequence DNA profiles collected for Project MinE.

If successful, this research could someday lead to the development of a blood test that measures biological age and detects genetic variations associated with ALS. If DNA methylation age does influence the timing of disease onset, the test may prove to be a valuable tool for understanding susceptibility to ALS and enable earlier diagnosis, resulting in an earlier administration of treatments.