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Monday, September 16, 2013

Prof Elizabeth Shephard's Radio Show Interview


Pythagoras’ Trousers, The Science & Technology Radio Show
Episode #131, [time frame 0:41 – 12:20]
Program: Fish Odor Syndrome
September 12, 2013
Rhys Phillips

Elizabeth Shephard, PhD
Professor of Molecular Biology
Vice Dean Education, Biosciences
Institute of Structural and Molecular Biology
Division of Biosciences
Darwin Building, UCL Genetics Institute
University College London
MEBO Research Scientific Advisor
Member of the MEBO Institutional Review Board

University College London
Gower Street
London, WC1E 6BT



It [Primary TMAU] is a genetic disorder caused by a bad gene and not because people have bad hygiene.
Professor Elizabeth Shephard, MEBO's Scientific Advisor and Member of the MEBO Institutional Review Board is interviewed by Beth Berry on TMAU, and describes the physical and psychological manifestation of TMAU, and explains the different genetic both Primary and Secondary form of TMAU.

[2:09] “It [Primary TMAU] is a genetic disorder caused by a bad gene and not because people have bad hygiene.”

She also explains the genetics of Primary TMAU. The most affected individuals’ defective genes are passed down from both mother and father [3:31] in the case of homozygous (receive two bad copies of the gene - one from each parent). The milder form heterozygous for the condition inherits one good gene from one parent and one bad gene from the other parent [3:49], but would produce enough protein that the patient would not necessarily have the condition of TMAU.

[4:00] Dr. Shephard also explains the genetics of the Transient Form of TMAU that affects children.

Episode #131, [time frame 0:41 – 12:20]
Program: Fish Odor Syndrome

Click on the following link to listen to the Radio Show Interview

http://www.rhysphillips.co.uk/pythagoras-trousers/episode-131/



mebo trinzyme project


[8:15]Beth Berry: Dr. Shephard tells me that there are research teams currently looking at these viable compounds to be used as therapeutic drugs, but it is not a quick or simple process to produce a treatment, as she explains.

HOW TO RESEARCH A THERAPEUTIC:

Professor Shephard: For any therapeutic, first of all, scientists have to discover a therapeutic, and then has to go through a series called Pre-Clinical Tests to understand the use of that therapeutic; does it do its job properly, make sure that it’s not toxic, and that it could potentially deliver when administered to patients? Then it has to go through a whole series of legislation to make sure that it will be safe. And then, when we talk about Clinical Trials, the therapeutic will be tested in healthy individuals to understand what the therapeutic does and to make sure there are no adverse effects. Only at that point would the therapeutic be permitted to be used for the treatment of individuals with a particular disorder. [9:14]

INTERNATIONAL SUPPORT NETWORK:
[9:15]Beth Berry: This condition is far from easy to live with, and so a support network is incredibly useful to people who suffer from this condition and who find it particularly detrimental. Support networks and websites have been set up where people can find advice on how to manage symptoms or how to explain their condition to friends, family, or co-workers. [9:38] These organizations also aim to spread information about this condition far and wide. As once we become more understanding of this condition, it is also likely that we will become more tolerant of it, and thus ease the suffering experience by patients. [9:52]


there are a number of different mutations, but they all influence the same protein
[9:53] Professor Shephard: We now have the internet, so it is easier to find information on the disorder, easier to take information to a medical doctor should you suspect you have this disorder, in case the medical doctor has not heard about the disorder.
[10:10] If a person does think that they have TMAU, the best thing to do is to consult a medical doctor, and to ask if a urine test could be carried out. A genetic test is something that would really come later and only if the person decides it. So the disorder can be detected by the urine analysis; the genetic test will confirm the mutation that the particular family might carry or that particular person might carry. [10:34] So, there are a number of different mutations, but they all influence the same protein, they just make different changes, some are more severe than others.


TMAU URINE TEST:
So, by understanding how much TMA there is relative to TMAO gives an indication of how well the enzyme is working.
Professor Shephard: [10:49] The urine test for TMAU tests for the amount of Trimethylamine (TMA) in the urine and it tests for the amount of Trimethylamine N-Oxide (TMAO). [11:00] The TMAO is the chemical that is produced by FMO3. TMAO is the chemical that does not smell and TMA is the chemical that does smell.

[11:07] So, by understanding how much TMA there is relative to TMAO gives an indication of how well the enzyme is working. So the less TMAO would indicate that the enzyme is not doing its job very well, and the more TMAO present, then the enzyme is doing its job better. [11:33]A person can be severely affected and might excrete 90% TMA and only 10% TMAO. Or a less severe person might excrete about 50% TMA and 50% TMAO. And that is really dependent on the individual, and the change in their gene that has affected their particular protein, and its ability to do its job. [12:01]

[12:02] I think we’ve reached the stage of scientific discover where it is now possible to think about the best ways of providing therapy for the patients. [12:14] Different groups will explore different therapeutic possibilities, but we all have the common goal to find a therapy that will help the patients to overcome the symptoms of Trimethylaminuria. [12:24]
See Orphanet link to research project

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1 comments:

Thiego Reis said...

Meanwhile, we get anxious waiting for the results.

Sep 16, 2013, 3:19:00 PM
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