A 'cell atlas' map of gene expression in endometriosis has been created by researchers to help improve understanding and treatment of the condition.
Endometriosis is a chronic condition where tissue that normally forms the womb lining (the endometrium) grows outside the uterus. Approximately ten percent of women worldwide are affected, and symptoms include severe period pain, nausea and infertility. However, the causes of this abnormal growth are poorly understood, and treatment options are limited.
'Endometriosis has been an understudied disease in part because of limited cellular data that has hindered the development of effective treatments', said study author Dr Kate Lawrenson from Cedars-Sinai Medical Centre in Los Angeles. 'In this study we applied a new technology called single-cell genomics, which allowed us to profile the many different cell types contributing to the disease.'
The study, published in Nature Genetics, details the creation of a cellular atlas by sequencing the transcriptomes of 400,000 individual cells taken from pelvic tissues of 17 endometriosis patients, and four unaffected women. A transcriptome consists of all the RNA in a sample, and gives a snapshot of which genes are being expressed.
By applying this to one cell at a time, the researchers were able to build up profiles of the different cell types involved in the disease.
The data outlines the different cell types found within endometrial tissue, but also revealed major differences between cells taken from endometriosis growths on the ovaries versus those found on the abdominal cavity.
The research also identified cells containing somatic mutations in the ARID1A gene, known to be associated with ovarian and other cancers. When the ARIDA1 protein is not functional, new blood and lymphatic vessels develop in the tissue. This could help explain why endometriosis behaves like cancer in terms of uncontrolled growth and is associated with increased risk of ovarian cancer.
'Identifying these cellular differences at such a detailed level should allow us to better understand the origins, natural progression, and potential therapeutic targets for treatment', said co-author Professor Matthew Siedhoff.
The data from the cell atlas has been made available to researchers worldwide, and the authors hope this will lead to better diagnostic and treatment tools being developed. The team at Cedars-Sinai have begun testing potential therapeutic targets in a mouse model.
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