200 repetative vulnerabilities in the Human Genome

The human genome has the capability to code for literally thousands of different protiens. It will be years, working our way through the genome linking it to biochemical processes in the body, and learning from them what the mechanisms are for the many diseases of the body. However recent breakthroughs in psychicatric medicine at both Stanford and MIT, suggest that some of the most puzzling of psychiatric disorders, might be related to regulatory protein syntheis being unbalanced by genetic errors that either are notable in the families with the dieases, and are caused by sloppy copying of these important regulatory protiens DNA codes.

Research at Stanford has implicated the repetitive sections as being important for the regulation of protein synthesis, and has developed the disease model, where both deletions in these segments of DNA and Duplications within these segments can cause disease. This has been used to propose a disease model for two types of Autism, for which drugs are in trial, or soon to be in trial. In one case a deletion of a segment of repetitive DNA can cause a reduction in a protein that regulates a process within the cell, and in another case a duplication of a segment of DNA can cause an up-regulation in the supply of a protein that regulates a process in the cell. When this happens, the effect, is to destroy the regulation of the process.

Now, because the net effect of both errors is to deregulate a process, similar symptoms may appear in both genetic populations, if they deregulate the same process. A case was described of one family where each generation one more repetition of a sequence was removed, causing the symptoms to appear earlier each generation.. Stanfords success at building it's disease model of two types of Autism, is based on simple chemical interventions that are associated within sub-populations of the Autism diagnosis, where the particular symptoms made genetic analysis more directed Fragile X, and Rett's Syndrome. Most Autism is yet undifferentiated, but a possible role of multiple proteins in the same biochemical pathway, suggests that there might be a spectrum of diseases that in different ways have an impact on that pathway, and that the disease is related to the disruption of the pathway.

MIT however is working on a different disease, that is just as difficult, the relationship between bipolar and schizophrenic diseases. They too have found, a spectrum of possible genetic disorders at least some of which are coding for regulatory proteins that regulate a pathway within the biochemistry of the cell. What they say, is that there are only 200 sites in the human genome where there are repetitive codes, that seem to be vulnerable to these duplication and deletion errors. because they involve long sequences of repetitive codes If each of these sites is one of a number of regulatory proteins, then evaluating these sites will probably result in disease models similar to those found by first Stanford and now MIT. Once such a model is available knock-out mice can probably be designed that show the symptoms of the disease, helping in determining what disesases are likely to be most prevalent as spectrum type diseases.

If both the autism spectrum and the bipolar-schizophrenic spectrum are caused by regulatory failure in protein synthesis for specific pathways in the cell, then it makes sense that other diseases may also be related to such failures.