Discovery
The RCCX gene theory was first published by psychiatrist Sharon Meglathery in 2016. After years of working as a physician, she was motivated to develop her theory by seeking to discover the origin of her own sudden, overlapping chronic illnesses. Meglathery’s hypothesis could revolutionize the practice of medicine by allying the fields of immunology and psychiatry to create a better future for those with genetic disorders.
What Is RCCX?
The normal function of RCCX is involved in the synthesis (creation of a new compound using several smaller substances) of several steroid hormones and extracellular matrix glycoproteins. This affects many processes, most importantly balancing sodium levels in the body, producing stress responses, and creating links between structural molecules and cells.
The RCCX complex is located on the sixth chromosome in the Major Histocompatibility region which allows our immune system to differentiate between our body’s cells and other cells. On a larger scale example, this region determines whether transplanted tissue is similar enough to be accepted into the body or not.
RCCX is made up of four genes; RP1, C4, CYP21A2, and TNXB. The peculiar thing about this complex is that it is the only place in the human genome that travels as one group rather than four separate genes. When deletion or replication occurs, they are deleted or replicated together, acting as one unit.
The Problem With RCCX
Copy number variations (CNVs) refer to the various amount of times a set of genes shows up in the DNA of different people. For example, one person could have one copy of RCCX in their DNA, while another person could have three copies of RCCX in their DNA. CNVs cause issues for some people because having a higher frequency of genes creates a higher chance that DNA becomes compromised and can cause imbalances. CNVs are difficult to research because they vary so much between organisms.
Due to RCCX’s unique mix of components, it easily allows the formation of comorbid disorders. The common autoimmune, neurological, endocrine, and connective tissue disorders suspected to originate from this gene complex include Postural Orthostatic Tachycardia Syndrome (POTS), Ehlers-Danlos Syndrome (EDS), Mast Cell Activation Syndrome (MCAS), fibromyalgia, sensory sensitivity, immunodeficiency, autoimmunity, and autism.
The Future of RCCX
Within hours of the theory’s publication, an endocrinologist named Karen Herbst got in contact with Meglathery to express her interest in the hypothesis. Today, the two continue to research the RCCX theory; however, information is limited and currently no clinical trials are being conducted.
