so where did the missing exon go
I was always wondering as to how did my son actually lose that exon and where did it go. Found some new information which would be intrest to many over here
There are somethings called transposons or jumping genes. These are the actual culprits that cut out sections of the human genome thereby resulting in a faulty DNA. This faulty DNA results in the human genome not working as supposed to be and resulting in problems like DMD.
Subsequently the gentic material that is created by transposons deleting or duplicating original genome results in a protein which is recognized by the immune system and killed.
These transposons are genetically similar to viruses which probably explains the sprodacity of the disease.
Now a couple of questions
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1. The true cure of the disease is to handle the transposon in the mother and along with fixing the effect of the transposon in the child. This will be also helpful for mothers who are either diagnosed as having faulty eggs or are germline carriers. Is anyone aware of any research being done to actually solve this transoposon problem?
2. Our immune system handles the effect of the transposon by killing the protein that is produced by the mixed genetic material. This means that the exon that has gone missing is lying somewhere in the body of the DMD person. Is there any research being done to do a full gene sequencing of the DMD perosn with the intent of findign where is transposon and the stolen exon is still hiding.
Further reading
===========
1. about transposons at http://en.wikipedia.org/wiki/Transposon
2. about how our immune system handles the effect of jumping gene http://www.sciencedaily.com/releases/2005/01/050106114650.htm
There are somethings called transposons or jumping genes. These are the actual culprits that cut out sections of the human genome thereby resulting in a faulty DNA. This faulty DNA results in the human genome not working as supposed to be and resulting in problems like DMD.
Subsequently the gentic material that is created by transposons deleting or duplicating original genome results in a protein which is recognized by the immune system and killed.
These transposons are genetically similar to viruses which probably explains the sprodacity of the disease.
Now a couple of questions
===================
1. The true cure of the disease is to handle the transposon in the mother and along with fixing the effect of the transposon in the child. This will be also helpful for mothers who are either diagnosed as having faulty eggs or are germline carriers. Is anyone aware of any research being done to actually solve this transoposon problem?
2. Our immune system handles the effect of the transposon by killing the protein that is produced by the mixed genetic material. This means that the exon that has gone missing is lying somewhere in the body of the DMD person. Is there any research being done to do a full gene sequencing of the DMD perosn with the intent of findign where is transposon and the stolen exon is still hiding.
Further reading
===========
1. about transposons at http://en.wikipedia.org/wiki/Transposon
2. about how our immune system handles the effect of jumping gene http://www.sciencedaily.com/releases/2005/01/050106114650.htm
Replies to This Discussion
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Permalink Reply by irishgirl on
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Just out of curiosity, where does your information come from? Wikipedia? Science Daily?
I always read sites like these with a grain of salt as they are generally written by non-medical staffers.
Stick to fact-based sites like PubMed.
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Permalink Reply by MarcosDad on
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I'm not a molecular scientist by any means but I wouldn't dismiss transposons as one possible explanation of De novo DMD mutations either. Transposons are considered "natural gene therapy". Nature's way of evolving life. We want to stick gene's in a virus and deliver it. Nature already did it with these genetic parasites. Those that study Genetic Algorithms, like myself, understand that to evolve a model random mutations are inserted into the model, some paths are short lived and die off, others live longer than their predecessor. "Survival of the fittest" was a phrase coined over this phenomena and why homosapiens have evolved into the modern day human. Why wouldn't transposons be one of these means of mutagenisis? Given the size of the DMD gene it seems that it would be a statistically likely target for these DNA parasites.
Regarding finding the missing exon(s). That would be quite impossible in my opinion, probably degraded and re-absorbed.
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