Are there tests to confirm active mutated genes?

[felixned]

Having heterzygous mutations in lrrk2 and gba genes I was curious if these mutations were active. This would be a logical question: I was perfectly ok for 63 years of my life then something happened and within 3 months I turned into a Parkinson patient. Is it possible that somehow the mutated "bad" version got turned on? I asked my neurologist and he said that there were no such tests. I find it puzzling since in different publications for example on lrrk2 g2019s mutation they state that there is overacting kinase inhibitor. There should be some standard they use to make such statement. Does anyone know if these tests exist?

[lenamm]

It's not that they are active or not active, you either have a mutation or you don't. I had LRRK2 and GBA also. I know LRRK2 makes neutrons more likely to die from oxidative stresses and the neurons are shorter and less resistant to stresses. So the mutations make you more likely to get PD if everything else lines up. My mother has both genes also but no PD but I was exposed to pesticides in my 20s so that probably killed my neurons easier because of the mutations. I also had more emotional stress which probably caused damage as well. My disease was sudden onset and came on over 30 minutes.

[laglag]

I'm in a study that's checking for those two genes. My doctor drew some blood and is sending it to Germany. They are also going to check 68 other genes if the 2 are negative. The doctor told me the IRRK2 is the genetic gene and GBA is the environmental gene. If you have PD, you could have one or both or possibly neither one. They are testing 10,000 people. Does that help at all?

I found this on Google:

Currently, genetic testing is available through your doctor for the genes: GBA, PARK7, SNCA, LRRK2, parkin and PINK1. At-home tests only look for one of several changes in LRRK2 (G2019S) and GBA (N370S) and do not map the entire gene to look for other mutations, which is a major goal of PD GENEration.

parkinson.org › genetics

Genetic Testing | Parkinson's Foundation