I am doing a study on exon duplication; where it started and when it started or as it always been here? Can the people in the group tell if there is any history in the family, if so how for back can it be traced or is it new to the family?. The following is something that is concerning me, especially the the part about exon duplication being very, very rare in animals. I have been sending this to other groups. If tou think it has any merit please do the same.
To whom it may concern:
Subject: Synthetic Hydrogen Bond and Exon Duplication
As a result of my grandson (Grant W. Meermann) having the rarest mutation that
causes Duchenne Muscular Dystrophy (1 in 10 of all DMD). I've developed a
personal interest in genetics. As a result, I've observed a pattern that I feel
may contribute to these mutations, and would like get your opinion. The pattern
The very rare mutation my grandson has is the result of the duplication of
exons....that is, one or more of the same exons with the same title are present,
giving that person more exons than normal in that area of the gene. Exon
duplication has also been found in some rare cancers and some other rare genetic
diseases. This exon duplication is being found in humans but this is almost
nonexistent in animals, suggesting that it is associated with some environmental
cause unique to humans (this could be a new phenomenon for humans). It has been
noted that the synthetic hydrogen bond (two hydrogen atoms with one proton
spaced between making a bond that has at least twice the strength) used in the
manufacture of all plastics that is chemically identical to the natural bond
found in our genes. This synthetic bond is at least twice as strong as the
natural hydrogen bond that holds our genes together as a cell divides, and
therefore it seems a likely this could cause for these mutations. Plastics are
now found in the circulation system of almost every human around the world.
We may be on a molecular level, gluing our genes together at the dividing point
with super-glue so when the gene tries to divide the bond is so strong exons are
being pulled over from the other side of the gene (crossing over). It would
appear to me that there is a simple way to test for this theory: Look for this
mutation in the tissue of humans from 4 or 5 generations ago (before plastics).
If no exon duplications are found we may have a cause these mutations. You may
have a better idea for a test to achieve this goal; either way, I'd like to
encourage future research in this area. Since our knowledge of the genetic
diseases only goes back to 1986 and reliable information does not go back even
that for,this could not only be an important finding for genetic research, but
could have significant implications because these mutation can be passed on from
generation to generation.
If you are aware of any research that would either confirm or negate my
concerns, I would appreciate any information you have.
Dennis R. Kessler
344 LCR 759
Groesbeck, TX 76642
Dennis - It's not the exons that are duplicated - it's the amino acids within the exon/intron that duplicated. I visualize the gene as a twisted ladder with four amino acids i.e. A,G,C,T within each rung of the later. The gene is the largest in the body and spans 79 exons long. Within each rung of the ladder, there a huge amounts of processing instructions to produce the end product, dystrophin. With duplications, two amino acids are present - AA, CC,GG, TT. So, the instructions are dropped because the processing is not 'readable' then the byproduct (partially produced protein) is terminated. It's quite the biochemical process and incredibly complicated.
As far as you not being able to do back into your family tree - well, that it's understandable. The dystrophin gene wasn't even discovered until 1980's. So, that's why you can't go back and see if there were duplications in your family tree.
I have heard that duplications are slower to process but that is just a rumor. I think it has to do with each boys chemistry and other biomarkers like osteopotin, etc.
I think University of Leiden has a data on duplications and what percentage they are to the total population. I think it is more like 20%. Also, you have to know that not so long ago, the scientists may not have identified or had genetic testing accurate enough to determine where something was a deletion, stop codon, duplication or splice mutation, etc. I know of a guy who is now 35 years old. He was originally diagnosed as DMD but later on a fluke, he was retested and he had some dystrophin and so his diagnosis was revised to BMD. But, he is not able to move and is more like DMD than BMD but he's 35 years old which is good for a DMD-er.
I think the dystrophin gene is huge and unstable. I think that is the reason for the DMD. And, who knows - maybe it is environment as well.
Genetics is a new science and we are only beginning to understand how it all fits together. I personally would not spend time on the genetics but on what you can do now for your grandson and what is coming up regarding research. Enjoy your grandson each and every day you have him.