Researchers have found a large number of molecular links that help explain the increased risk of multiple sclerosis (MS) in women with endometriosis. Most of these shared molecular alterations are related to the immune response.
Those findings come from the study, “Identification of Shared Molecular Signatures Indicate the Susceptibility of Endometriosis to Multiple Sclerosis,“ which was published recently in the journal Frontiers in Genetics.
Immunological factors have a key contribution in the development of endometriosis. A specific immune cell type called macrophage has a well-known role in the onset and progression of the disease. Instead of removing the endometrial cells, activated macrophages promote their repair and survival, which leads to a sustained presence of displaced endometrial tissue.
Research has shown that women with endometriosis are more susceptible to MS. However, there is still limited evidence explaining the molecular, immunological or defense mechanisms shared by these two diseases.
Similar to endometriosis, macrophages also play an essential role in the development of MS. Both diseases show increased ratio of inflammatory Th1 cells versus anti-inflammatory Th2, as well as a prominent role of interferon-gamma, a pro-inflammatory type of molecule.
Evaluation of common molecular pathways and their components, along with the underlying genes, may help clarify the association between endometriosis and MS, the researchers hypothesized.
Their study intended to discover commonly dysregulated genes and pathways in the two diseases. Investigators performed a meta-analysis — a type of statistical analysis combining data from multiple studies — using gene expression data from studies of differentially expressed genes (DEGs) in endometriosis and MS, with data from patients and healthy controls.
Results showed a total of 711 and 1,516 DEGs in endometriosis and MS, respectively, with 129 shared between the two diseases.
Detailed analysis of shared gene expression signatures showed six interaction networks or crosstalks commonly dysregulated in the pathways of endometriosis and MS, mostly associated with immune responses. “This result suggested the probable associations of these two diseases through overlapping protein interactions,” the researchers wrote.
They found that PTPN1, ERBB3, and CDH1 were the main genes associated with disease-related genes in both endometriosis and MS.
“The findings from this study increase our understanding of the molecular mechanisms affecting both [endometriosis] and MS,” the investigators wrote.
The common molecular signatures can be explored as therapeutic targets and disease biomarkers for simultaneous treatment of both diseases, they said.