Could you explain for us how the mutations work?

Dr Dolphin was part of the team who first demonstrated that mutations in the FMO3 gene are the cause of the inherited (primary form) of TMAU.

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Could you explain for us how the mutations work?

Postby Ellie Girl » Wed Jul 06, 2011 1:20 pm

Thank you very much for coming on here to answer our uestions - it's much appreciated!

I have been diagnosed (without having to take a choline challenge) as TMAU positive through a urine test.

I've recently had bloods taken to determine DNA/mutations To determine whether I have TMAU 1 or 2, as previously it was thought I had 2, but now my endocrinologist thinks it might be 1.

Could you explain for us the different types of mutations and what they mean? and if possible, how treatment differes (if it does) between TMAU 1 and 2, and what the real long-term options are for each?

Thank you!
Ellie Girl
 
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Re: Could you explain for us how the mutations work?

Postby FADworker » Fri Jul 08, 2011 9:55 pm

Ellie Girl wrote:Thank you very much for coming on here to answer our uestions - it's much appreciated!

I have been diagnosed (without having to take a choline challenge) as TMAU positive through a urine test.

I've recently had bloods taken to determine DNA/mutations To determine whether I have TMAU 1 or 2, as previously it was thought I had 2, but now my endocrinologist thinks it might be 1.

Could you explain for us the different types of mutations and what they mean? and if possible, how treatment differes (if it does) between TMAU 1 and 2, and what the real long-term options are for each?

Thank you!


Hi Ellie Girl

If your blood has been sent away so that your FMO3 genes (you have two - one inherited from your Mum and one from your Dad) can be tested it should be possible to determine whether you have TMAU1 or TMAU2. TMAU1 is the inherited form of TMAU in that the lack of active FMO3 enyme in the liver is due to the individual inheriting faulty copies of the FMO3 gene (made from the four DNA 'letters' A, C, T & G). The FMO3 gene makes (actually codes for) the FMO3 enzyme so a faulty gene will result in faulty enzyme. These 'faults' are commonly due to mistakes in the A, C, T & G DNA 'letters' that make up the gene. There are about 25,000 A, C, T or Gs in the human FMO3 gene. Sometimes, one of these mistakes will have a direct effect on the FMO3 enyzme and, although it will still be made, it will be inactive and incapable of converting the smelly TMA that arrives in the liver from the digestive tract to the non-smelly oxide (TMAO) - this is a mutation. About 20 or so different mutations have been found in the FMO3 gene and I would expect you would be tested for most of these.

TMAU2 is due to a lack of FMO3 in the liver due to a non-genetic reason.

The treatment would be the same for both forms of TMAU - mainly dietary control to limit the intake of those foods that result in the production of TMA. ANy future treatments would likely be effective for both forms.
FADworker
 
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Re: Could you explain for us how the mutations work?

Postby Ellie Girl » Tue Jul 12, 2011 9:20 am

Thank you!
Ellie Girl
 
Posts: 107
Joined: Fri Dec 17, 2010 4:30 pm


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