Palo Alto, California- A team of researchers at Stanford University may be closer to understanding why women are at a greater risk of autoimmune diseases such as multiple sclerosis, lupus, and rheumatoid arthritis. This long-standing medical mystery could be unraveled thanks to a new study that suggests the female body’s handling of its extra X chromosome may play a role in making women more susceptible to these chronic conditions.
The study, which involved experimenting on mice, could potentially lead to new treatments and improved diagnostic methods for these disorders, according to senior author Dr. Howard Chang, a professor of dermatology and genetics at Stanford School of Medicine. The research is particularly significant due to the striking female bias observed in immune-related diseases, prompting Chang to investigate the topic from a clinical perspective.
Autoimmune diseases affect around 24 million people in the United States and occur when the immune system mistakenly attacks the body’s own cells and tissues. The study’s findings focus on the role played by a molecule called Xist, which is not present in male cells and is responsible for deactivating the second female X chromosome in embryos to prevent potentially toxic gene expression.
Chang’s discovery of the potential link between Xist and autoimmune diseases came about while studying for medical exams almost a decade ago. He noticed a connection between the proteins that Xist works with and skin-related autoimmune disorders, leading him to explore the role of Xist in triggering these conditions.
By genetically engineering male mice to produce Xist, the research team was able to demonstrate that the presence of this molecule in male cells could lead to the development of autoimmunity, similar to that observed in female mice. Additionally, analysis of blood serum from humans with autoimmune diseases revealed higher levels of autoantibodies in reaction to proteins associated with Xist.
While the study sheds light on the potential role of Xist in driving autoimmunity and explaining the female bias in these diseases, the researchers emphasize that it is just one piece of a complex puzzle. They acknowledge the influence of environmental factors such as diet, microbiome, and behaviors like smoking, in addition to genetics, in contributing to autoimmune diseases.
Ultimately, the findings of this study hold promise for improved diagnostic tools and potential therapeutic interventions for autoimmune diseases as researchers continue to explore the diagnostic and therapeutic potential of Xist.