View Single Post
Old 10-20-2012, 10:08 PM
Conductor71's Avatar
Conductor71 Conductor71 is offline
Senior Member
 
Join Date: Jul 2009
Location: Michigan
Posts: 1,474
15 yr Member
Conductor71 Conductor71 is offline
Senior Member
Conductor71's Avatar
 
Join Date: Jul 2009
Location: Michigan
Posts: 1,474
15 yr Member
Default Mechanism leading to sporadic PD isolated: another biomarker

This is potentially big news. It hit the press on 9/25 so please forgive if I am duplicating.

Looks like researchers may have found our "Golden Ticket". Yes, researchers at Columbia U have isolated what they think might be the common basis for sporadic PD. Yes, it does have to do with alpha-synuclein. It was discovered in doing some meta-research in gene network mapping and transcription analysis that

It turns out multiple different alpha-synuclein transcript forms are generated during the initial step in making the disease protein; our study implicates the longer transcript forms as the major culprits...

Some very common genetic variants in the alpha-synuclein gene, present in many people, are known to impact the likelihood that an individual will suffer from sporadic Parkinson's. In our study, we show that people with 'bad' variants of the gene make more of the elongated alpha-synuclein transcript forms. This ultimately means that more of the disease protein is made and may accumulate in the brain.


http://www.sciencedaily.com/releases...0925142559.htm

Furthermore, the researchers found that exposure to certain toxins "can increase the abundance of this longer transcript form of alpha-synuclein. Thus, this mechanism may represent a common pathway by which environmental and genetic factors impact the disease,"

Interesting... we have the genetics covered, toxins, a simple blood test to read levels of the elongated mutation to diagnose, and a potential new treatment target in drugs to stop the or reduce the accumulation of this toxic alpha -syn forms.

Best news is this info has all been validated in real live patients.

The finding is particularly intriguing, but needs to be validated in additional patient groups," said Dr. Abeliovich.

This is the pivotal point (one that I think that PWPboy was trying to relay) is that MJFF initially funded this study. There are lots of us who would gladly become the additional patient groups. What is the next step for the researcher here? Anyone know?
Conductor71 is offline   Reply With QuoteReply With Quote
"Thanks for this!" says:
olsen (10-21-2012)