MTHFR A1298C - homo mutation

Sue Harteloh

4 Posts
Reply Posted on: Jun 26, 2012 at 6:19pm
Hi Dr B. Just received my remaning lab results. After a FULL panel of immune tests, everything came back normal except:

MTHFR A1298C - Homozygous Mutated
(no mutation in any of the other blood clotting or mutation tests)

CD3 - high end of normal range
CD4 - slightly higher than normal range
CD8 - slightly lower than normal range
(all other RIP values are within range, and even on the low side of range)

DQa - partial match (4.1)
HLA-C - partial match
HLA-DRB1 - partial match
(no other matches)

Cytokines, NK Assay, ANA, APA, ATA, Thyroid & all others = normal

As I mentioned in my previous posting (before receiving the MTHFR results), I have not been able to conceive with my husband for over 12 years since the birth of my son - even with many IVF cycles and high grade donor embryos. I've had my uterus examined & tested - no issues. No physical or non-immune issues discovered.

The MTHFR A1298C homo mutation is the only thing to come onto the radar as a possible cause for my inability to conceive for so long.

1. Could MTHFR A1298C homo mutation ALONE contribute to preg loss?
2. Should I have my homocysteine levels tested to see if they are high (as I've read that the MTHFR mutation only matters if homocysteine levels are high)?
3. To be SAFE, would you recommend to someone like me Lovenex? If so, for how long?

Thank you!!!!

Dr. Braverman

1998 Posts
RE: MTHFR A1298C - homo mutation Posted on: Jun 26, 2012 at 7:39pm
There is clearly not an obvious answer , it is not the MTFHR mutation. I would really need to see you and go over your entire history to help you. sometimes there are very subtle things we find, but it is very unusual that I would not find the answer.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

Sue Harteloh

4 Posts
Reply RE: MTHFR A1298C - homo mutation Posted on: Jun 26, 2012 at 10:04pm
Thank you Dr B. Sounds like MTHFR A1298C homo mutation "alone" isn't the issue. I'm guessing based on your previous answer that the more common C mutation is more concerning than the A mutation - even though I'm homozygous?

The only other tests that I haven't had done are the LAD test (me and husband) and the LAC test. Would you suggest either of these 2 tests? Or do you think they would be a waste of time (and money) based on the overall "normalcy" of all my other labs?

Lastly, in my previous IVF cycles (including DE cycle), I was on prednisone & had IL infusions (1 before each transfer). Since my cytokines are normally quite low without any suppression (TNF ratio = 12.4, IFN ratio = 6.3), is it at all POSSIBLE that the steroids & IL lowered my already low cytokines TOO MUCH, which potentially COULD have resulted in the IVF cycle failures???

Since there are really no other red flags in my medical history (both recent and past), I'm sorta thinking "over-suppression" may ultimately be the reason the cycles haven't been working. (Note - I was prescribed the steroids & IL due to my partial DQa match & borderline elevated NK Assay results - I no longer see the RE who prescribed me these).

Have I finally stumbled upon the reason after all these years? I know you can't say for sure, but I'm really VERY curious what you "think"...

:-)

Dr. Braverman

1998 Posts
RE: MTHFR A1298C - homo mutation Posted on: Jul 2, 2012 at 7:47pm
I have written about just these issues on the blog. Obviously your a reader!
Yes I would not treat anymore and woudl consider probiotics to actually increase the activity of your immune system. And also you may be a candidate for neopogen.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

Dr. Braverman

1998 Posts
RE: MTHFR A1298C - homo mutation Posted on: Jul 2, 2012 at 7:48pm
I have written about just these issues on the blog. Obviously your a reader!
Yes I would not treat anymore and woudl consider probiotics to actually increase the activity of your immune system. And also you may be a candidate for neopogen.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.

Sue Harteloh

4 Posts
Reply RE: MTHFR A1298C - homo mutation Posted on: Jul 2, 2012 at 8:10pm
Thank you Dr. Braverman! Regarding the Neupogen, I thought that was prescribed as an alternative to IL and IVIG? Since IL and IVIG would suppress my immune system too much (given that my immune ratios & numbers are already on the low side), wouldn't Neupogen suppress my immune system as well? Or does it work differently from IL & IVIG?

Can you clarify the circumstances in which Neopogen works best, and whether it would indeed be beneficial to someone like me who has immune test results on the lower end of normal?

Thanks again!

Sue

Dr. Braverman

1998 Posts
RE: MTHFR A1298C - homo mutation Posted on: Jul 3, 2012 at 9:56am
neupogen does not suppress the mmune system. It works by recruiting cells to the uterine lining that assist in implantation, attaching to cells of the embryo to help them divide, does the same for the uterin endometrial cells. It also incrrease T regulatior cells that are important to turn of any immune attack.
So yes with a depressed immune system it would be the best choice.We also use it for those that have failed tihe immune suppresson protocols. And the recruitment of cells to the uterine interface may help correct an over suppressed immune system.
Dr. Jeffrey Braverman MD FACOG
Medical Director
Braverman Reproductive Immunology P.C.