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Lorit249

23 and me Participants - general PD genetics question

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I just got my results from 23 and me and I don't have either the LRRK2 or the GBA genes - what does that mean? Am I less likely to pass it on or perhaps not PD?

 

Lori

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I just means you do not have 2 of the 26 known genes that are suspected to cause genetic Parkinson's. Not sure if it means you are less likely to pass it on or not.

I had my DNA analyzed for mutation of LRRK2 and GBA. Both came back not mutated. Meaning they can not say for sure those specific 2 genes cause or contributed to my diagnosis of PD.

Wish I could give you a more definitive answer. Maybe others will chime in with better answers.  

Blessings

Adam

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When I used Promethease, the cost was $5. No LRRK2 or GBA mutations associated w/ increased PD risk. Same results with genetic screening for Parkinson's Progression Marker Initiative (i.e., I didn't qualify for the study).

Thing is, most people with PD *don't* have LRRK2 or GBA mutations, or any other mutations strongly linked to familial PD. My dad had PD, and my sister was recently diagnosed. That might suggest a genetic cause, but we've have also lived in similar environments, associated with somewhat higher risk. And the specifics of the disease were somewhat different for us--my dad was diagnosed in his late 60s, tremor dominate, relatively fast initial progression (very typical PD profile). My sister has no tremor, but debilitating postural instability, and gait issues. Symptoms starting ~55 y.o., undiagnosed for 4-5 years until she went to an MDS. I was diagnosed at 46, tremor dominate, very slow progression to date.

Although my dad never had genetic testing, and I don't believe my sister has had any testing yet, I would be very surprised if either had LRRK2 or GBA mutations.

It's a weird disease (or diseases).

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ShopGuy,

thanks for your reply,it is really cheap to do the genetic testing with promethease.I would have thought that there should be some kind of genetic mutation in your case,since you have a family history of PD,but like you stated,you all lived in a high risk enviroment.I have a strong feeling PD might be transmissible,although there is no studies to support this.PD is really weird,agreed.I am sorry for your Dad's situation,and how is your sister coping?What medications is she on?

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I have done the 123 and follow-on promethease analysis.  Before you do the promethease analysis of the 123andme raw data, ensure you are mentally prepared for all the risk factor mutations that may be in your DNA. Some may not want to know since there is not much you can do about  your genes anyway.   I have some history of Alzheimers in my family and I did have a mutation risk factor for that disease. Not a worry issue for me--just good to know.  There is an entire website devoted to the APOE mutation group.   I do have PD but did not have the mutations for that. I had an elevated risk for prostate cancer and sure enough I did have to deal with that successfully this year. 

Just because you have the risk factor mutations for many maladies  does not mean you will get the disease.  As has been mentioned in other threads things like lifestyle, and environmental factors have an impact.

I personally believe it is important to capture the data from my genetic "footprint" for my children to have and use as they see fit just like family genealogies. For what it is worth.   The FDA limits the amount of analysis 123andme can divulge from what I understand.

 

DB

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Follow-up to Dancing Bear's cautions re: Promethease. My understanding is Promethease is completely automated: the analysis just matched your results from 23andMe (or other testing service) with info in the Promethease database. Some info is more reliable or relevant that other info, depending on the size of the study for that particular gene SNP, whether or not the study was ever replicated, etc. Promethease tries to rate the reliability and relevance of info about particular mutations with a number they call 'magnitude' which starts at 0 ('boring') and goes up. But the magnitude score is crowd-sourced, so has issues.

It's useful to consider what percentage of the population has a 'bad' mutation, as well. For example, my Promethease report shows I have a SNP mutation (rs1333049(C;G)) associated with 1.5X increased risk of coronary artery disease. But 50.4% of the population has the same mutation, meaning more people than not have the same increased risk. Since my annual physicals show no other risk factors for CAD, I don't worry much about it.

Also, testing services like 23andMe use an 'in-house' code name for some SNPs, which doesn't match the name of the SNP used in scientific literature. For example, 23andMe apparently uses code names for some of the SNPs on the BRCA genes where mutations are associated with increased breast cancer risk. Promethease tries to match 23andMe code names with names in the literature, but there's some guesswork involved and mistakes happen.

Otolorin--thanks for the comment. My father died in February from PD-related complications, but did well while alive coping with his reduced physical abilities--fortunately, never any significant cognitive issues. My sister seems to be responding well to C/L. It was a struggle for her to find out what was going on and get a dx, and I hope she has a nice long honeymoon period with the drugs to make up for some of that.

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ShopGuy,

I can imagine how stressful it is for more than one person to be dx with PD in a family,PD really sucks.I struggled like your sister to understand what was wrong with me before being dx'd.It took multiple opinions from three different neurologists.My primary physician whom I usually run to,whenever I feel anything unusual, attributed all my non motor symptoms to anxiety,stress from work or side effects of anxiety drugs,until the muscle rigidity started on my left arm.We should all be optimistic like M.J Fox,that our honeymoon will last our lifetime,till a cure is found.

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