To DMD parents:

 

Pardon my ignorance but I am trying to figure out if Logan's mutation is a "nonsense mutation". He has a transversion at splice site 12+1 G to T. I understand that it is a rare mutation. Just curious if any drugs that are in clinical trials would be able to help Logan if they are available to public in time to help....

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I don't understand much about each mutation but there are some upcoming approaches that aren't mutation specific. One that went into clinical trial for Phase II, in Canada is a myostatin inhibitor (ACE-031) made by a company called Acceleron (in USA). Not sure how the trial is coming along but I think we might hear something next year. Not sure when/if we'll be seeing a trial for that one here in the USA.
I've never heard the term "transversion" myself. Try sending a message to Sharon Hesterlee - she can probably help you.
I think I understand the very basic issue on the mutation you show as your son's. Think of the dystrophin gene as a twisted latter. It is like a spiral staircase. Within each step on the latter, there are four amino acids - A,C,G,T - i.e. Each amino acid has a very specific place in the horizon step - if it is out of order, then the instructions to the protein - dystrophin are lost - or mixed up. In most of the cases - the mutation is a deletion (it's missing entirely) or a duplication - there are more than one - or point mutation - or stop codon. The gene itself is 79 exons long. So, it sounds like the mutation that you are referring to is right around exon 12. But, you should ask the geneticist at the care facility to help you better understand it. This is super important - b/c when trials come about you will need to know where the mutation is to apply and see if you qualify. Go into this web site and search for transversion or splices. I think your sons amino acids are just reversed. Char Burke
Transversion refers to any mutation where a pyramidine (cytosine, thymine or uracil) is substituted by a purine (guanine or adenosine) or vice versa. Any point mutation where a pyramidine is substituted by a pyramidine, or a purine is substituted by a purine is a called a transition mutation.

In Lisa's sons case it is a purine to pyramidine transversion.

Silly that we have all these interchangeable terms ... and depending on which lab reports the findings will depend on which nomenclature is used. Makes a tricky situation all the harder some days *sigh*



Keith Van Houten said:
I've never heard the term "transversion" myself. Try sending a message to Sharon Hesterlee - she can probably help you.

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