C677T mutation and Cystic Fibrosis

This topic contains 3 replies, has 1 voice, and was last updated by  dmaria 1 year, 11 months ago.

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  • #4278 Reply

    Maria L.

    I was curious if you knew of any relationship with the c677t mutation and Cystic Fibrosis.  My youngest daughter was diagnosed at birth with Cystic Fibrosis.  Her mutation is the most common CF mutation (Double Delta F508).   This summer, after a  pulmonary  embolism landed me in the ER, I was diagnosed as being homozygous for the c677t  MTHFR mutation.  As a precaution, we had both of my children tested to determine if they had it as well.   Of course, the one who already has one genetic disease is the one who turned out to be homozygous for the c677t  MTHFR mutation as well.  Have you ever heard of a correlation between CF and a MTHFR gene mutation?  We are setting up an appointment with a hematology specialist for advise on how we will need to address this additional complication to her life.  If you have any advise or know of someone who might have some experience with both of these mutations, I would appreciate any advise we can get.

    Thanks!!

     

    #5850 Reply

    Diane P.

    I’m far from an expert but did some research a while back on MTHFR. I do recall that the MTHFR mutation needs to be taken into account when drug dosing. There is an article entitled ‘Understanding the Clinical Utility of MTHFR Gene Testing for Chronic Disease Management’. This article states: ‘… Knowing an individual’s MTHFR 677C>T genotype can provide important clues not only in the treatment of patients presenting with hyperhomocysteinemia, but also in understanding patient response to medication dosages. There is evidence to suggest that medications affecting folate metabolism, e.g. bile acid sequestrants, antacids, oral medications for diabetes, certain types of chemotherapy and H2 blockers, may be more toxic in MTHFR mutation carriers than non-carriers4-7.’. Here is the article: http://www.hdlabinc.com/sciencebulletin/Clinical-Articles/the-clinical-utility-of-mthfr-gene-mutation-testing As a side note I remember hearing that some people react adversely to chemotherapy, in particular they have extreme lung injury, and doctors do not know why. I wondered if the MTHFR mutation could be affecting those people but they and their doctors are unaware of the connection. I hope this is helpful to you.

    #5851 Reply

    Teresa Nevins

    The fluoroquinolone antibiotics can cause damage to tendons in some users. I’ll bet they are MTHFRers because they cannot detoxify well. I have some damage myself after taking Levaquin two years ago; I am still feeling effects.

    #5906 Reply

    dmaria

    I am 54 years old and have the MTHFR c677t genetic defect. My brothers also both have it. One brother and myself have had multiple (many) blood clots and are on coumadin for life. I also was diagnosed with Fibrosis in my lungs and a mycobacterium infection and am suspecting some version (milder) of adult CF. Sounds crazy, but more adults are first being diagnosed with milder versions of cf in adulthood. I also have scoliosis with a Harrington rod in my back. I am currently researching the connection between CF and this genetic defect, if any. I have trouble with many medications and am now suspecting this may play a part. My doctors do consider this a genetic clotting disorder. Hope this info helps you in some way. Wishing you all the best and good things in the future.

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