Its quite important as mutations in this gene are the most common cause of Parkinson's. Indeed some reckon that up to 40% of people with Parkinson's could have the disease because of just one mutation in this gene. This mutation swaps the 2019th amino acid, from G to S.
Its important to people in Tunisia, where up to 40% of people with PD carry this mutation. Probably this means the mutation may have started in Tunisia. In Yorkshire, UK, my colleague Oliver looked for G2019S mutations, and could not find a single one in over 1000 people, so its not so common where I live.
Its quite important to Sergei Brin - maybe you know his firm? Google? He was found to have the the G2019S mutation from his mother, and the brave man has both written about it and given a big donation to try and help understand how this G to S change leads to Parkinson's.
Its quite important to me, as I work on the cause of Parkinson's, by looking at how flies engineered for Parkinson's related genes work. I'm just amazed at how these insects can give us insights into the effects of all sorts of mutations. My hope is that the fact that we are all made up of similar cells and nerves means that what we find in the fly, with its great experimental genetics, will be useful in the clinic.
All for now - see you again soon
chris
PS. Even if you know that you have the mutation, it doesn't mean you will get Parkinson's. Curious?
