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Old 04-26-2017, 11:00 AM #1
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Default More expert help with genetics

Hi,

Just to update you, my sister and I are getting ready for our appointment at Oxford UK to see another professor in SFN who deals with genetics. We are there for 2 days while we have a number of blood tests looking for variants and full blood screen again. We have had SCN9a & 10 already which came back negative.


My biopsy showed an increase in nerve fibers, whereas my sister's showed a loss of nerve fibers but did show that fibers were re-generating.

I've today seen my local neurologist who feels this is genetic. My sister and I have no family history of SFN. This started for both of us within months of each other in December 2012. However, my 5 year old son has had complaints of bugs crawling all over him and feeling itchy. I am still trying to understand the genetics, as I thought genetic SFN would be passed to a child in an autosomal dominant inheritance. My father or mother have never had any complaints of SFN, nor my grandparents or great aunts and uncles or aunts or uncles. Its just me and my sister, so im presuming it can't be a sporadic thing as we both wouldn't have it.

Professor i spoke to said it could have been a virus, or autoimmune. Its so confusing, as one says yes it must be genetic if sister has it, then the other says well its not in keeping with genetic channelopathies as you don't get increased fibers with that. He then went on to suggest is in keeping with autoimmune, which IVIG has been suggested.

Does anybody have any clue. Hoping i can come back from Oxford with some answers!

Lou Lou
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Old 04-26-2017, 11:54 AM #2
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Were you tested for the MTHFR methylation errors -- this is a DNA test. ?
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Old 04-26-2017, 12:29 PM #3
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Were you tested for the MTHFR methylation errors -- this is a DNA test. ?
I don't think so, what is this test for?
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Old 04-26-2017, 12:53 PM #4
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Autosomal dominant diseases arise when somebody has inherited a mutant form of a gene which codes for a protein which has a pathological "gain of function" effect.

They are very rare and show a very strong genetic pattern. If your SFN arises from an autosomal dominant effect then one of your parents would also have SFN as would one of their parents and so on. The fact that this is not part of your family history means that an autosomal dominant effect can be confidently ruled out.

The MTHFR gene effects which mrsD has mentioned are different. Mutants of this gene (there are a couple of common ones) lead to its encoded protein having an impaired function. This can have many effects and is certainly worth checking out - the Oxford geneticist should be able to advise you about this.
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Old 04-26-2017, 01:48 PM #5
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Autosomal dominant diseases arise when somebody has inherited a mutant form of a gene which codes for a protein which has a pathological "gain of function" effect.

They are very rare and show a very strong genetic pattern. If your SFN arises from an autosomal dominant effect then one of your parents would also have SFN as would one of their parents and so on. The fact that this is not part of your family history means that an autosomal dominant effect can be confidently ruled out.

The MTHFR gene effects which mrsD has mentioned are different. Mutants of this gene (there are a couple of common ones) lead to its encoded protein having an impaired function. This can have many effects and is certainly worth checking out - the Oxford geneticist should be able to advise you about this.
Thanks Kiwi. I also wonder if members of my family did have this they had it mildly so didnt say. My dad died at 57 of pancreatic cancer. His wife my step mum said he never had sfn complaints. My mum is obese and is in pain from weight but not aware of any complaints re sfn. Spoke to my 88 year old grandad who says never heard of this type of complaint in family. Dad who died had twin brother who had no complaints. Don't understand how this can be genetic. With the gene Mrs d mentioned, would I not have a vitamin deficiency? All my blooks show normal?
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Old 04-26-2017, 01:53 PM #6
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Methylation errors prevent nerve repair and maintenance.

B12 and folate have to be methylated in the body, to work in the tissues. If this fails partially or completely the body cannot function properly.

It is turning out to be more common than once thought (up to 40% now), and some
people posting here are finding they have some degree of mutation when they end up here. Most doctors still do not investigate this, even though it has been a decade or so since it was discovered.

The methylated form of B12 is called methylcobalamin. The methylated form of folic acid is called methylfolate. If one has one of the methylation mutations, these supplements can be taken to correct the lack and restore normal functions.

Here is a link to the information about it:
MTHFR Mutation | MTHFR Gene Mutation | What is MTHFR? - MTHFR.net

Your B12 level should be at least 400pg/ml.. Labs are still using the old values that start at 180. If you are calling you labs normal, look closely to see if you are being compared using the old outdated range.
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Old 04-27-2017, 09:20 AM #7
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Methylation errors prevent nerve repair and maintenance.

B12 and folate have to be methylated in the body, to work in the tissues. If this fails partially or completely the body cannot function properly.

It is turning out to be more common than once thought (up to 40% now), and some
people posting here are finding they have some degree of mutation when they end up here. Most doctors still do not investigate this, even though it has been a decade or so since it was discovered.

The methylated form of B12 is called methylcobalamin. The methylated form of folic acid is called methylfolate. If one has one of the methylation mutations, these supplements can be taken to correct the lack and restore normal functions.

Here is a link to the information about it:
MTHFR Mutation | MTHFR Gene Mutation | What is MTHFR? - MTHFR.net

Your B12 level should be at least 400pg/ml.. Labs are still using the old values that start at 180. If you are calling you labs normal, look closely to see if you are being compared using the old outdated range.
Thanks Mrs D i will look into this.

I am wondering if anybody in my family has had this before but not mentioned anything as wasn't bothersome, i would have thought if it is genetic like my local neurologist has suggested it is, would fall in an autosomal dominant pattern. Kiwi suggested this can't be the case as there would be a strong family history. It is confusing, as the Dr's say one thing but it doesn't make sense when you look at it. I am worried for my 5 year old son who has complaints of SFN.
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Old 04-27-2017, 12:09 PM #8
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When I started reading about MTHFR it was just over a decade ago. Back then I recall the Merck paper, saying about 10% of adults have this.That has changed over the years to now about 40%.

However the DNA test shows other things too. Janieg here found she had an error processing biotin (a B-vitamin). This is not common, but she also learned that babies born now get tested for this at birth. She is missing only one gene and so has avoided major symptoms until now. If people are missing both genes however, the symptoms are severe and present at birth. These babies have obvious weak muscles and other problems.
Charcot Marie Tooth (CMT), a genetic form of PN, is complex and has many variants too. It can present in childhood.

The biotin problem is treated with biotin in high dose daily. But as of yet the CMT does not have a treatment designated for it.

Not all genetic problems have been identified yet, but certainly we do have a handle on some of them.
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Old 04-27-2017, 12:22 PM #9
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This is a bit complicated but mutations in the MTHFR gene are not autosomal dominant. The full name of the MTHFR protein (coded for by the MTHFR gene) is methylene tetrahydrofolate reductase. It is an enzyme which, among other things, has a role in methylation of Vitamin B12 and folate to give their active forms.

The most common mutations in the MTHFR gene are C677T and A1298C. These are called Single Nucleotide Polymorphisms (SNPs) and their effect is to change the sequence of amino acids (one change for each mutation) in the MTHFR enzyme, leading to a decrease in its activity.

Everybody inherits two copies of the MTHFR gene, one from each parent.

Scenario 1: If both copies of the MTHFR gene have C at position 677 and A at position 1298 then the encoded MTHFR enzyme will have high activity. All other combinations can and do happen.

Scenario 2: One copy of the MTHFR gene might have T at position 677 and A at position 1298 and the other copy might have C at position 677 and A at position 1298. This will lead to slightly reduced levels of fully active MTHFR enzyme.

Scenario 3: Both inherited copies might have T at position 677 and C at position 1298. In this case the activity of the encoded MTHFR enzyme will be very low.

All of the other scenarios are somewhere between Scenario 1 and Scenario 3.
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Last edited by kiwi33; 04-28-2017 at 03:43 AM. Reason: Fixed some typos.
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Old 04-27-2017, 05:53 PM #10
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I am trying to remember, did you and your sister live in the same place or visit with each other very frequently when the sfn came on?
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