Genetics of Gadolinium Deposition Disease. Genetics of GDD and Genetics of Immune Systemic Dysregulation both likely exist.

Historically I have never advertised research that I was very keen to do, because I did not want another group to do it before I completed and published it. I have changed my view with GDD, because I realize that I do not have the time or the resources to do some critical studies on GDD.

One of the most major is the genetics of GDD. For several years I have focused on that there must be a gene or gene complex for GDD susceptibility, seeing this heavy metal toxicity similar (also in who gets it) to Genetic Hemochromatosis- a genetic disease of increased iron intake in the body with a define main gene, and subsequently several other genes that may cause it. This primarily affects white central Europeans (Gaulic descent), and GDD primarily affects white females.

With more experience it is clear that other genes certainly play an important role. This started with the MTHFR gene variant, maybe at least 1/4 of GDD sufferers have it. It is a problem of generating active forms of certain drugs which require methylation to be activated. The high prevalence explains why we use methylated forms of drugs. Subsequently I have managed individuals with a variety of other rare gene variants. These rare gene variants generally have been genes that affect proper immune reactivity.... This may also be the problem with MTHFR. So a fair number of patients have genes not related directly to GDD, but rather to immune function.

So one thing is clear to me, genes that affect immune function, in particular T cells, also increase the likelihood of developing GDD. They increase susceptibility to GDD, and obviously a number of other diseases that depend on T cell functioning. The potential for identification of a gene/ gene complex specific to GDD, gene discovery (not identification of already known genes in sufferers). This would likely require two populations- each of probably at least 500 individuals. 500 with Gad Storage Condition (received GBCA but not sick) and 500 with GDD. It is not clear to me if this can be done with something as simple as a buccal smear, or require a blood sample.

This would be another multimillion dollar study.

I already described in another recent blog that a study of interest, and should also be continued ongoing with new treatments as they arise, is a crossover study comparing DTPA chelation with another chelating agent, and this could be also done with any treatment such as a drug that turns the key to stop the immune system from reacting to the presence of Gd... basically what GSC individuals have going on.

Richard Semelka, MD