LRRK2 and ATP13a2

untitledJust accepted in Human Molecular Genetics, a really interesting report on how variants in ATP13a2 (a gene involved in a rare inherited form of early onset parkinsonism called Kufor Rakeb Syndrome, or KRS) can influence the probability that a mutation in LRRK2 will cause disease. The study, led by Huw Morris at the UCL Institute of Neurology, is one of the first to show precise evidence of oligogenic inheritance in Parkinson’s, where more than one gene is influencing disease onset. Intriguingly, a parallel study using a different approach by Matt Farrer from the University of British Columbia identifies another gene, DNM3, as having a similar role. There is also an interesting editorial in Lancet Neurology about this. If you want to read more about the HMG study (which myself and James Tomkins, a PhD student in the lab, where involved in), click on the link below.

http://hmg.oxfordjournals.org/content/early/2016/10/14/hmg.ddw348.abstract

Advertisements

LRRK2 and Autophagy part II

untitled

Just out in Scientific Reports, a study from Claudia Manzoni in the group reporting that LRRK2 regulates macroautophagy via the Beclin pathway. The study is a follow up on a paper we published a couple of years ago, and provides important insights into the normal function of LRRK2, which will be very important for evaluating drugs that target this protein as a potential therapy for Parkinson’s. The paper is free to download, so click on the link below if you are interested in learning more.

http://www.nature.com/articles/srep35106