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Suggest Specialized Testing When The Following Methylation Mutations Are Identified

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Posted on Sat, 5 Dec 2015
Question: I have been identified with the following methylation mutations and want to know what kind of specialized testing you would recommend to see if I am having problems related to the defects. I also have three hetero and 11 homo defects associated with detox. If those are relevant to your opinion, please let me know and I will list them out.
Heterozygous methylation. The doctor I visited said these were not a "big deal." I want to confirm. ALSO, why would I have six genes with a result of "no call?"
VDRBsm     rs0000     TT
MAO-A R297R     rs6323          TT
BHMT-08     RS651852     TT
Homozygnous methylation
MTHFR C677T     rs0000     AG
MTRR K350A     rs162036     AG
BHMT-02     rs567754     ct
doctor
Answered by Dr. Diptanshu Das (28 minutes later)
Brief Answer:
There could be an indirect association

Detailed Answer:
Thanks for asking on HealthcareMagic.

I have very carefully gone through the entire details provided. Our genes are switched on and off by the process of methylation. The metabolic processes (and also the immunological processes) proceed in a definite sequence where one thing follows another. But inability for these switches messes up with the entire process. Although not directly associated with any definite disease entity, I would definitely consider it a 'big deal' and this is probably indirectly the cause behind all the problems that you are having. But indeed there is no direct association and the direct correlations and the functions of all the genes might not yet be known.

B Vitamins act as cofactors of many metabolic processes. My suggestion would be to take plenty of yogurt or curd since it contains beneficial bacteria that manufacture B vitamins in our intestines. Apart from that continue to take Vitamin B complex capsules and natural folate.

It is perhaps no use taking a battery of tests. You have to deal with the conditions you have. The tests should be done only when they facilitate any decision making pertaining to interventions. It is no use knowing things that one cannot do anything about.

Let me know if I could help you further.

Regards
Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
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Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3875 Questions

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Suggest Specialized Testing When The Following Methylation Mutations Are Identified

Brief Answer: There could be an indirect association Detailed Answer: Thanks for asking on HealthcareMagic. I have very carefully gone through the entire details provided. Our genes are switched on and off by the process of methylation. The metabolic processes (and also the immunological processes) proceed in a definite sequence where one thing follows another. But inability for these switches messes up with the entire process. Although not directly associated with any definite disease entity, I would definitely consider it a 'big deal' and this is probably indirectly the cause behind all the problems that you are having. But indeed there is no direct association and the direct correlations and the functions of all the genes might not yet be known. B Vitamins act as cofactors of many metabolic processes. My suggestion would be to take plenty of yogurt or curd since it contains beneficial bacteria that manufacture B vitamins in our intestines. Apart from that continue to take Vitamin B complex capsules and natural folate. It is perhaps no use taking a battery of tests. You have to deal with the conditions you have. The tests should be done only when they facilitate any decision making pertaining to interventions. It is no use knowing things that one cannot do anything about. Let me know if I could help you further. Regards