NeuroTalk Support Groups

NeuroTalk Support Groups (https://www.neurotalk.org/)
-   Parkinson's Disease (https://www.neurotalk.org/parkinson-s-disease/)
-   -   PD causative genes (https://www.neurotalk.org/parkinson-s-disease/126998-pd-causative-genes.html)

olsen 07-03-2010 03:20 PM

PD causative genes
 
(I am uncertain how many of these genes are tested via 23andme. Interesting to note the physiological mechanisms controlled by/influenced by these genes. link is for full text PDF)


Over the decade, more than 15 loci and 11 causative genes
have been identified so far and many studies shed light on
their implication in not only monogenic but also sporadic form
of PD. Recent studies revealed that PD-associated genes
play important roles in cellular functions, such as mitochondrial
functions, ubiquitin-proteasomal system, autophagylysosomal
pathway and membrane trafficking. Furthermore,
the proteins encoded by PD-associated genes can interact
with each other and such gene products may share a common
pathway that leads to nigral degeneration. However,
their precise roles in the disease and their normal functions
remain poorly understood. In this study, we review recent
progress in knowledge about the genes associated with
familial PD.

J. Neurochem. (2009) 111, 1075–1093.
http://www3.interscience.wiley.com/c...08153/PDFSTART

Conductor71 07-04-2010 09:31 AM

Not many
 
Quote:

Originally Posted by olsen (Post 671734)
(I am uncertain how many of these genes are tested via 23andme. Interesting to note the physiological mechanisms controlled by/influenced by these genes. link is for full text PDF)

To my knowledge only LRRK2 is tested and if you or your loved one has YOPD then this is entirely irrelevant.

I asked my doctor and he said only reliable lab work is done on the Parkin 1 mutation; health insurance will not cover genetic testing.

Please take the time to run your 23andMe raw data through the Promothease Database. They identify several PD SNPS and the info is interesting though not as attractively presented.

HTH

Laura

vlhperry 07-05-2010 02:54 PM

Nonsence
 
My HMO covered the cost of testing. I had mine tested at Athenia Diagnostics. With the new health care system coming, maybe that changed, but seems to me that Private Health Insurance has as much to gain from genetic testing information as the Pharma companies do. Helping gather information by paying for Genetic testing could pay off for the Private Health Industry Industry Bigtime!! No more paying for Pharma drugs, etc. when the info is used to find cures!!

Conductor71 07-05-2010 04:40 PM

It would seem nonsensical, yes.
 
Quote:

Originally Posted by vlhperry (Post 672227)
My HMO covered the cost of testing. I had mine tested at Athenia Diagnostics. With the new health care system coming, maybe that changed, but seems to me that Private Health Insurance has as much to gain from genetic testing information as the Pharma companies do. Helping gather information by paying for Genetic testing could pay off for the Private Health Industry Industry Bigtime!! No more paying for Pharma drugs, etc. when the info is used to find cures!!

Vicky,

I find insurance coverage nothing but absurd anymore. Maybe it is a limitation here in MI, but I have pursued genetic testing and clinical trial participation with two MDS here and have received discouraging replies. Either little genetic testing is reliable and I have to pay out of pocket for each one. I can't participate in a trial unless one of my parents has been diagnosed with PD. BTW, my father has a clear benign essential tremor in both hands - has had it since he was a young man. I presented with a tremor in right hand only and six years later have other mild PD symptoms.

I would think that the tremor bridges us from one disorder to the other. No one seems at all interested in my particular familial link though it may be a unique one connecting ET and PD. Short of chaining myself to the door of the NINDS or taking full page ads in journals, I am not sure how to get their attention. Please, if you have any leads, I'd be happy to pursue.

As for insurance absurdities, Aetna will not cover the cost of a PET scan in differential diagnoses because it is too "experimental", yet it will cover the cost of one of the Sniff test cards-and somehow that is definitive?? I have not lost my sense of smell, so that means I don't have PD according to them. It all has to do with what they want to pay for.

Laura

vlhperry 07-06-2010 07:22 AM

link to updated Gene information
 
An interesting analysis of effects of specific gene mutations. Note page1084 states that deletion of exon 2 of Parkin gene exhibits lethality in both Drosophilia and Caen... elegens models.

http://pt.wkhealth.com/pt/re/nestle/...?nav=reference


All times are GMT -5. The time now is 08:38 PM.

Powered by vBulletin • Copyright ©2000 - 2025, Jelsoft Enterprises Ltd.

vBulletin Optimisation provided by vB Optimise (Lite) - vBulletin Mods & Addons Copyright © 2025 DragonByte Technologies Ltd.