LC-MS/MS applied to directly study DNA damage in Wilson's disease

(Image courtesy of Hendrik A. van Dijk & Herbert L. Fred, MD, original link here.)

This new paper in press from Yang Yu et al., at MCP is fascinating for a ton of reasons. First one, I have never heard of Wilson's disease and I had to read up on it in this Wikipedia article. In a nutshell, its a recessive genetic disease. If you get stuck with two of the copies because your traitless parents both had it then you accumulate excessive copper in your system. This copper messes with your liver and maybe your brain and it is somewhat subtle and very difficult to diagnose. Sometimes you have oddness in your eyes that is indicative, as shown above.

Another reason this is fascinating? They detail a painstaking method of directly analyzing DNA damage via LC-MS. The introduction of stable isotopes leads to an absolute quantification method via triple quad and ion trap mass spec. It is really a fascinating method because when we think DNA damage, we think about assessing downstream effects (got the right affect/effect this time, I think!). If I want to quantify DNA damage, I'm going with phospho-H2AX quantification or something like that. These guys cut out all the middlemen and go right to the DNA!