PSP and commercially purchased DNA kit(23andMe).

[Drbotto]

My wife passed from PSP. An interesting thing is that about 3 years before we noticed any symptoms we purchased a DNA kit from 23 an Me. We both did buccal swabs and sent them in. When looking through our returned results I noticed that one of the diseases mentioned for her was PSP. Not sure if any professionals know this could be detected in a commercially purchased DNA kit.

[Kevin_1]

Hello Dr Botto

Thanks for that very interesting information.

I am so sorry you lost your wife to this terrible illness and I hope you have found some healing. It's hard.

Over time I have had conversations with two world grade Professors who specialise in the PSP group of illnesses. Both are have genetic research departments for PSP.

Both have been very clear that there is no evidence of a genetic predisposition, or a genetic failing which is inherited.

However there is a gene which fails and at that time the problem with the Tau protein begins.

Could it have been that which they detected?

Looking forward to hearing more.

I am trying hard not to mention (and failing) that a screen name of Dr and Bot is not the most confidence building one.

I do hope you are sincere.

There is much suffering and struggle here, as we try to care for the ones we love.

Please come back and tell us more.

Best

Kevin

[raincitygirl]

Hello! Welcome to this site. Are you the female Dr. R. Botto listed with the Kensington Medical Clinic??

We take our physician participants very seriously, as you can tell from Kevin's response above.

The tertiary Neurologists at our University (of British Columbia) said the same thing about PSP and CBD that Kevin outlined.

Cheers,

Anne G. in Canada

[aliciamq]

WoW!?!?!?

[Bargiepat]

Hi,

All very interesting.......... did you share this fact with the Neurologist that gave your wife her PSP diagnosis and do you still have the letter ?

Regards,

Patrick.

[ketchupman]

My wife had the test done by 23 And Me about 4 years before her passing with PSP. Their results didn't even list PSP on their list at the time. It did list Parkinson's and it showed that she had a small chance of getting it, which is odd, because on her mother's side of the family, her grandfather, 2 aunts, and 2 uncles, all had Parkinson's. It did correctly determine that she was female with blue eyes. But that was about it.

Ketchupman

[Kevin_1]

Gosh, Ketchupman

You Americans are ahead of us here. The last time I had my genes checked was to make sure there were no holes in the back side!

There are some 20,000 genes in the human genome. So the number they need to test would be quite large. So I guess they would start the other way around and test say the top 100 illness? Maybe smaller. It would be interesting to know.

This might be of interest to you:

From the American National Institute of Health

"While progressive supranuclear palsy (PSP) is usually sporadic, some cases run in families. In most cases, the genetic cause is unknown, but some are due to mutations or "variations" in the MAPT gene.

The MAPT gene gives the body instructions to make a protein called tau. This protein is found in nerve cells (neurons) in the brain and in other parts of the nervous system. It plays a part in putting together and stabilizing components of the structure of cells, helping cells to keep their shape, and aiding in cell division and the transport of materials. It appears that gene mutations or variations that affect the function of the tau protein cause PSP, or cause an increased risk for a person to develop PSP.

Abnormal tau is also found in people with PSP who don't have MAPT mutations. Therefore, researchers think that additional genetic and environmental factors contribute to the development of PSP. However, other specific genes that may be involved have not yet been identified.[3]"

Dated 2015.

Things have likely moved on a bit.

Cheers

Kevin

[enjoysalud in reply to Kevin_1]

Kevin, my son took the 23andMe (free of charge) as he was DX with Parkinson's by a neurologist. I believe at the time The MICHAEL J FOX FOUNDATION was encouraging participation. They were trying to get as much info on PD as possible. He took the saliva test, I think Sept of 2016. I took it too, a year or so later. It was offered at a 50% discount because I was directly related to my son.

I am still getting genetic data on Jeff and we are in 2018. They have been informed that Jeff has died and had been re-DX with PSP, and gave me the choice on continuing to receive results. I affirmatively replied.

Long story short, he had no variant for PD. At first I was shocked, hadn't he been DX by the neurologist? Then January of 2017 he was re-DX with PSP.

PSP produces TAU in the brain. PD produces alpha-synuclein.

Jeff's father was DX with FTD at UCLA back in late 1997 ( we were divorced long before, but I was able to get copies of those medical records....helps to have kids who are/were attorneys). His father died in 2002. AS I RECALL THERE ARE 6 PRIME OF LIFE BRAIN DISEASES, AMONG them are PSP, CBD, MSA FTD, etc.

I do not believe that we can say EMPHATICALLY state that there is NO genetic predisposition/failing for PSP. Esteemed Professor or not. We can say that as yet there is no evidence. The research continues and it's not over until it's over. I for one BELIEVE there is a genetic or mutant possibility to PSP. Perhaps I do because I find greater comfort in a genetic/mutant cause than an environmental or sporadic cause.

BTW, as I get more results from 23andMe, they have added, when I have no variant, "You are not a carrier of the variant that we tested. You could still be a carrier if you have a variant not covered by this test."

Genetics is a baby in the world of Medicine/ Science. The verdict for a genetic cause, in my book, is still out.

Affectionately, Margarita

[raincitygirl in reply to Kevin_1]

...but then with dyed underpants the holes should not present a problem..?

😉

[Kevin_1 in reply to raincitygirl]

Trust me... every morning I search through my underpants to find a pair with holes that don't align with those in my genes (sic)... I take my health very seriously.

Gotta go - the psyche nurse is on her rounds.

🙀🙀🙀

[raincitygirl in reply to Kevin_1]

too clever by half, you are....

[Kevin_1 in reply to raincitygirl]

Nah, just a little embarrassed and being silly.

[Kevin_1]

Hi Margarita

I don't think we are on different pages here.

Yes genetic research is still a growing science, but I think recent discussions with two leading Professors does carry a little weight as per the current state of knowledge.

Parkinson's disease (and its variants) has seven different genes implicated and the known PSP gene is not one of them according to recent research.

Yes, I agree we cannot be emphatic about anything regarding genes and possible inherited dispositions. See my post above, there does seem to be some element of inherited vulnerability for a small group of people, but it's not yet understood who, how and what.

All I try and do is read about the current state of research and state it as it is. Never would I consider anything as a final truth. I've lived to long to believe in such things.

I must admit that I am cautious of commercial medical companies. Most of the studies done on them show that in order to progress they need massive investment from the financial sector and those investors put a lot of pressure on the clinical teams to get, "their product to market." In other words to get out there even if they are not quite up the scratch. In the UK we have a much higher benchmark before such services are allowed to be put on the market. That may or may not be a good thing, but we have much lower levels of companies getting caught with their trousers down.

I would want quite a bit more data from 23 and me before I trusted them. What genes are they scanning and how many illnesses, in their database, are they matching those scans to? What is their error level? And a lot more.

So it is I do my best to read the research that is available from non commercial sites and stick to the evidence they provide. Hoping above hoping that there is progress and some light at the end of the tunnel.

Nothing I have said here disagrees with your post.

I do appreciate you coming back. It has made me refine my thoughts.

You are an inspiration.

As always

Warmly

Kevin

PS - You sound to have had a very rocky journey with dx. Hopefully things are a little better now.

And as always I am aware of your untimely losses. Do respect to you and respect to your informed thoughts.

[enjoysalud in reply to Kevin_1]

Hi Kevin, thank you for your response. I would suggest that you google: 23andMe+Michael J Fox Foundation. I think it might be helpful to you.

BTW, what are the names that you cite of "the two world grade professors who specialize in PSP group of illnesses"?

I have never received info from 23andMe regarding PSP. Perhaps Dr botto got PD and PSP confused.

Speaking of confusion, I am confused regarding " a very rocky journey with dx."

Blessings.............

[enjoysalud in reply to Kevin_1]

Kevin, P.S, I forgot to clearly state that PSP and PD presently have not been found to be related to each other. Instead I implied it with PSP PRODUCES TAU IN THE BRAIN......PD PRODUCES ALPHA-SYNUCLEIN.

I am 77 going on 78....I hope to have 15 more years of health, and I HOPE that in that time the discussion we are having will have valid scientific answers. I'm sure you do too.

Time to close the computer down, eat dinner, and relax in front of the TV......

Blessings

[Artteach10]

Interesting. There is so much research that needs to be done. So sorry about your wife. Nancyxxx

[Christine47]

We also purchased the 23andMe kit last year for my husband. It showed nothing of value relative to any health issues, no clues as to why he has PSP in his genes. Personally, I thought it was a waste of money.

[enjoysalud in reply to Christine47]

Christine47, I do not believe the purpose of 23andMe is to provide "clues as to why he (your husband) has PSP in his genes" ....It's understood that genes are inherited.

I believe the results (variant present) of DNA is to encourage us to discuss it with our health professional. Many women who have found that they are at risk for breast cancer now have choices. Those results are not expected to give clues as to why they carry those genes. As we both know so little is known about PSP, let alone genes identified.

My DNA results did NOT include anything regarding PSP. Parkinsons, YES, but only to give info as to whether I carried the variant for PD. Did your husband's identify PSP in his genes????

Blessings........