Recently the PD field and specifically the LRRK2 gene came into limelight. The co-founder of Google, Sergy Brin has been diagnosed with PD and preliminary results point out to the fact that there is a point mutation in G2019, where the Glycine residue has been mutated to Serine (S) [G2019S mutation]. This mutation has been linked with enhanced levels of kinase activity and is known to be effected in PD: both in familial (5-6%) and sporadic cases (1-2%).
Brin’s mother was diagnosed with Parkinson’s, and now he has to live with the reality that he might one day develop the disease as well. Says Brin:
Nonetheless it is clear that I have a markedly higher chance of developing Parkinson’s in my lifetime than the average person. In fact, it is somewhere between 20% to 80% depending on the study and how you measure. At the same time, research into LRRK2 looks intriguing (both for LRRK2 carriers and potentially for others).
This leaves me in a rather unique position. I know early in my life something I am substantially predisposed to. I now have the opportunity to adjust my life to reduce those odds (e.g. there is evidence that exercise may be protective against Parkinson’s). I also have the opportunity to perform and support research into this disease long before it may affect me. And, regardless of my own health it can help my family members as well as others.
I feel fortunate to be in this position. Until the fountain of youth is discovered, all of us will have some conditions in our old age only we don’t know what they will be. I have a better guess than almost anyone else for what ills may be mine — and I have decades to prepare for it.
Also more info available at:
http://thegenesherpa.blogspot.com/2008/09/lrrk2-and-parkinson-disease.html
http://news.cnet.com/8301-1023_3-10045958-93.html
Thursday, September 25, 2008
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