Questions Re: Dr. Vladutiu's Statin Study

[starfish]

Hi Everyone. I would appreciate your input.

I read Dr. Graveline’s recent newsletter (Jan. 6, 2009) about Dr. Vladutiu’s Research Study for Genetic Susceptibility to Statins. I took Crestor for only 3 weeks in 2005, and stopped due to severe debilitating muscle pain, burning nerve pain, weakness, and memory problems. Now over 3 years later, I continue to have myopathy and polyneuropathy. I take many various amino acids, enzymes, vitamins, and other supplements daily.

I plan to participate in Dr. Vladutiu’s statin study. Using blood tests, they said they will test volunteers for genetic mutations causing 3 triggerable myopathies: McArdle Disease (myophosphorylase deficiency), Carnitine Palmitoyltransferase (CPT) II Deficiency, and Myoadenylate Deaminase Deficiency. They may also test CK (Creatine Kinase).

I would appreciate any advice. My questions are:
1. Has anyone else in this forum participated yet? How long did it take to get results?

2. Since I take several dozen various supplements (e.g. Carnitine – 3000 mg, CoQ10, etc. daily), should I stop taking them, and if so, for how long prior to testing? For example, would Carnitine supplementation affect the results of the Carnitine Palmitoyltransferase (CPT) II Deficiency or CK tests? Could any other supplements affect the test results? I want the test results to be as accurate as possible.

Thanks so much for your help.
Starfish

[cjbrooksjc]

Starfish: This is a new study or a new segment of an on-going study at any rate. I am going to participate and just rec'd my packet of information and forms from Dr Vladutiu. There are no results yet available (that I am aware of).

As this study is testing for GENETIC predisposition you should not have to change your regimen. If a genetic flaw exists, you were born with it, and it will show up regardless.

Let's just hope they know of and are looking for ALL possible flaws.

Best,

Brooks

[Darrell]

Very interesting. Months ago I reached the conclusion that I have Carnitine Palmitoyltransferase (CPT) II Deficiency based on my very strong positive response to L-carnitine treatment.

Some time ago I saw that some people on this board were having very strong positive response to ribose. They no doubt have Myoadenylate Deaminase Deficiency. Ribose had no effect for me. Now I know why.

We can at least take comfort that both L-carnitine and ribose are safe, relatively inexpensive, and readily available.

[starfish]

Thanks Brooks and Darrell for your input.

In Dr. Vladutiu’s “Genetic Predisposition to Statin Myopathy” packet of information, it states that they will contact participants if any abnormalities are found. I thought the test results might be helpful in my treatment or at least help me determine which supplements would be most beneficial.

So far large daily doses of acetyl-L-Carnitine and L-Carnitine have helped a little; however, I haven’t found anything so far that gives me very much improvement.

[cjbrooksjc]

I think you will read in the packet that they will send the results to the Primary Care Phys. whose name & Address you included in the paperwork.

Brooks

[peter s]

Are not these particular genetic disorders quite rare? I wonder if they can really explain a significant percentage of adverse reactions.

[Darrell]

Some are not so rare -- it's just that they often have minimal symptoms and don't get intense scrutiny. "Under the radar" if you will. Apparently statin use can sometimes do damage that can intensify the symptoms.

Muscle cells each have many mitochondria. Sometimes the degree of symptoms depends on the percentage of mitochondria damaged.

[cjbrooksjc]

These disorders are common enough, and statins are suspect enough in their initial presentation, that the study has been funded and undertaken. I don't know if the study includes investigating the genetic marker recently discovered as being indicative of an individual's susceptibility to statin side effects. In any case, the study results may help provide data ultimately used to identify individuals; like us, who should avoid statins at all cost.

Brooks

[Brian C.]

Recent research in the Netherlands, where neurologists have long worried about the rising number of patients they have been seeing who have been taking statins, has shown that two important proteins involved in the formation of the myelin sheathing of nerves are inhibited by statins.

No reference yet since this is yet to be published in English.

Brian.

[peter s]

As a reminder, information about the genetic marker (I assume this is what Brooks is referring to). Not clear to me if there is a publicly available test yet?

*http://findarticles.com/p/articles/mi_pwwi/is_/ai_n17071493

[cjbrooksjc]

Yes. Thank you, Peter. That is exactly my reference. I'm sure there is a test, although likely uncommon. You would likely have to search for a provider, and I doubt if it is covered by any insurance. I'm going to send a brief email to NYU at Buffalo to see if they plan to include the results of this discovery in their study.

Best,

Brooks

[cjbrooksjc]

My reply (abbreviated) from Dr Vladutiu re: the Buffalo Statin study, is included below.

*********************************************************

Hello:

Our study is not prompted by this company's [DNAPrint Genomics Inc.] finding. I have not heard of this discovery although I am familiar with Dr. Frudakis' papers.

There are many investigators who have discovered genetic markers for statin myopathy risk. Probably the most significant is from the SEARCH group:

**http://content.nejm.org/cgi/content/abstract/359/8/789
**http://www3.interscience.wiley.com/journal/112604779/abstract?CRETRY=1&SRETRY=0


Kind regards,

Georgirene Vladutiu

**********************************************************

Best,

Brooks

[Allen1]

Hi there Brooks,

to get the 2nd link to load its page, I had to chop off the end and used the link as shown below. (may be just the way I have my firefox browser set though)

**http://www3.interscience.wiley.com/journal/112604779/abstract?

All the best,

Allen :)

[cjbrooksjc]

I thought those RETRY values looked funny, but it worked on my end... who knows.

Anyway, Dr. Vladutiu sent an additional reply which I will post below. It should be of special interest to all in the UK.

************************************************************
Mr. Brooks:

I might add that it is very difficult to get patents for genetic testing. If you browse the [U.S.] patent office site and plug in "Frudakis and statin" you'll see that DNAPrint has submitted many patent applications (costly) for various genetic tests but on the patent received side, I did not see any that have come to fruition.

This is true of other colleagues and companies I know of as well. A genetic testing company must have considerable cash reserve to pay for each application and then there is no guarantee.

We just keep working along to find genetic determinants like the SEARCH group in Great Britain. Watch them, I would not be surprised if they try to patent their finding in the abstract I sent you. It is the most impressive finding yet in the field.

Best regards,


Georgirene D. Vladutiu, Ph.D.
************************************************************

Interesting, yes?

Brooks