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Tiny genetic variations in a region of DNA called the GBA gene are associated with an increased risk of developing Parkinson’s. The information in the GBA gene provides the instructions for making an enzyme (called GCase) which is involved with waste disposal inside of cells.
Individuals with Parkinson’s who carry a variation in their GBA gene typically have low levels of GCase activity, so researchers have been attempting to identify therapeutic molecules that will enhance the level and activity of GCase as an approach towards slowing the progression of Parkinson’s.
Recently, however, new research has provide novel insights into how the biology of GCase pathway may be affected in individuals with Parkinson’s who carry a GBA genetic variation.
In today’s post, we will explain what the GBA gene and GCase enzyme are, review the new research, and consider the potential implications of these findings.
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Prof Sulzer. Source: Youtube
Professor David Sulzer is one individual in the scientific research community who truly fascinates me.
In addition to being at the absolute top of his game academically (he is a professor of Psychiatry, Neurology, Pharmacology at Columbia University and maintains a very large research group investigating neurodegenerative conditions), he is also a composer and musician with a discography that any professional artists would be extremely proud of (his recording alias is Dave Soldier).
He’s also written books (for example “Music Math and Mind“).
Where he finds the time to do all of these thing I do not know, but I really like the combination of art and science.
Oh, and did I forget to mention the Thai Elephant Orchestra?
I’m sorry: The what?!?
They have released three CDs and the band grew up to 14 elephants.
Fascinating, but what does this have to do with Parkinson’s?