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There IS a person, in Japan, who is trying to get a trial for skipping exon 45 in 2010. We just heard about this yesterday from Annemieke, the scientist from Lieden, NL. I am going to spend some time looking into more info on this person in Japan, his (I suppose this person is a male but don't know for sure) is MATSUO. No doubt there will be something on the web, somewhere. Our son requires skipping 44 & 45, according to Annemieke. If Mark will benefit from just 45 you might want to look into this as well. If you do, would you mind sharing? Two moms are much better than one!!
I was thinking you might be interested in Steve Wilton's explanation about some in-frame mutations not progressing like Becker...it is quite interesting (of course we need to wait for the exon skipping trials to validate this...).
The reading frame rule holds true in about 90% of cases when the DNA is studied. When the RNA is studied, I think the reading frame holds true for 99% of cases.
There are a number of mistakes / changes in the DNA that affect the processing of the gene message. That is what may look like an in-frame deletion at the DNA level is manifested as an out-of-frame mutation at the mRNA level.
A good example of this is the deletion of exon 5, as detected by routine DNA testing. Loss of this exon does not disrupt the reading frame and would be expected to be BMD. However, two independent cases of an exon 5 deletion were found to lead to DMD. When further testing was done at the mRNA level, the gene transcript was missing exons 5 and 6 (out-of-frame) and this is consistent with DMD.
There are still other reasons for an in-frame deletion giving rise to a severe DMD phenotype.
1. the deletion is so big that crucial domains are lost and the encoded protein is too small to work. I understand that deletions of 34 (or 36 ?) or more exons are always associated with a severe prognosis.
2. the deletion has taken out a crucial binding domain. An in-frame deletion of exons 66-70 removes the b-dystroglycan binding domain. The protein would be non-functional
3. there is another mutation in the dystrophin gene. There are now several cases where multiple mutations in the one gene have been reported. Hence during routine screening a deletion may be found but there is still the possibility of subtle spelling errors (AND >END) in other parts of the gene.
I hope this helps. DNA diagnosis is a good start but it can miss the processing errors that may lead to deletions form the mRNA.'
Just wanted to let you know that we started Haelan 951 a little over a month ago. We started out slow, but he takes it no problem in the am and pm. He is only 27 pounds so we give him 15 ml's in the am and 15 ml's in the pm. We really think we see a difference strength wise and lifting his knees up higher when he runs. So far so good. We haven't started Idebenone yet, but that will be the next change for us. Sounds like it's going good with Mark. How is he doing? I would love to hear from you. Tonya :-)
yes Connor is on 15mg steroids ,10 days on and 10 days off, he also has vitamin supplements and calcium supplements, he has been on them for the last 12 months and he is doing grate. he is still very mobile and still can clime the stairs. How is your son doing?