This week. Because I was traveling this week, I didn’t manage to put a blog post together for you. However, I wanted to catch up with recent publications in the field. Also, I wanted to point out a recent trend in the field – emerging interest and concern about data return from next-generation sequencing studies. However, let’s start with this week’s publications.
SUMO. While ubiquitination is well known, SUMOylation as a post-translational mechanism is less understood. Basically, SUMO proteins attach to other proteins and alter their function. In a recent publication in Neuron, Qi and collaborators examine the effects of SENP2 deficiency in mice. SENP2 is a SUMO protease, which cuts SUMO proteins from target proteins. The authors find that ablating the function of SENP2 protein leads to hyperSUMOylation of various potassium channels and epilepsy.
Summary: HyperSUMOylation of ion channels may be novel pathogenic mechanism in epilepsy.
Book chapter. I was asked to contribute a book chapter to the recent edition of Progress in Brain Research, discussing the impact of novel molecular techniques on epilepsy research. This book chapter now came out online, and I tried to discuss the recent history of large-scale epilepsy genetic studies, starting with copy number variants and finishing off with the current state of exome studies.
Summary: Let me know if you can’t get this book chapter through your library. I can see if I can provide you with a copy.
Data return. During the last two weeks, the issue of data return from massive parallel sequencing studies came up on various occasions. Interestingly, Dan Koboldt from massgenomics.org published a post on this on the same day that I had in intense discussion about this with our research agency.
Summary: Should we start facing the new reality that every research exome in severe epilepsies is also diagnostic, as some of these findings are medically actionable. Is the enrollment of patients in research studies without a clear concept for data return a questionable research practice? I’m happy to get this discussion started.