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Monday, September 24, 2012

TMAU/FMO3 webinar recording : Professors Shephard and Phillips

2ND Webinar on FMO3



This is the recording of the TMAU/FMO3 webinar that took place 23rd September 2012
Guest Speakers : Professor Elizabeth Shephard and Professor Ian Phillips
Webinar title : "FMO3 : bugs, genes and drugs"

The webinar was kindly hosted by Rob Pleticha of rareconnect.org
You can see the original post on rareconnect.org here : TMAU webinar
rareconnect.org has a TMAU community : rareconnect.org TMAU community

This is the first in a series of webinars with TMAU/FMO3 experts as guest speakers. There was also a previous webinar where TMAU sufferer, MEBO UK Director of Public Relations, Karen gave a talk on how to use the media to advance the Cause of people living with malodour disorders: Karen's TMAU talk.

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3 comments:

Betty Wolcott said...

This excellent webinar enabled me to do a more informed set of internet searches on FMO3.

Question: if selenocysteine can override UGA stop codes, would it work on FMO3 mutations in the same way as Ataluren to alleviate TMAU symptoms? (Selenocysteine is available on Amazon.)

Thank you so much.

Oct 8, 2012, 2:16:00 AM
blogcontributor2 said...

Hi Betty

I don't know the answer to your question but it seems that people with nonsense mutations ('false stops') usually make up a small % of a 'deficiency' community. Usually about 5-10% (and nonsense mutations are usually very severe). So even if selenocysteine worked it would only work for say 5-10% of the community.

I guess there is probably a reason it won't work anyway, or they would be using that ?

Oct 11, 2012, 9:58:00 PM
blogcontributor2 said...

Hi Betty

Professor Shephard emailed a reply to me. Here it is :

There are ongoing clinical trials for cystic fibrosis where chemicals that allow stop mutations to be by-passed are being tested. If these prove successful then such treatments could be used for other disorders caused by stop codon mutations. However, it turns out that the base sequence on either side of the stop codon are really important in how well this approach works.

No clinical trials have been carried out to show that selenocysteine will overcome stop codon mutations. Such trials would have to be done on a protein by protein basis. Because each protein has a specific amino acid order. This order and identity of the amino acids is crucial for the protein to adopt a precise 3-dimensional structure.

Oct 27, 2012, 10:15:00 AM
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