Cell: research reveals the "origin" of autoimmune diseases

February 15, 2020 / BIOON / -- recently, researchers from Garvan Medical Research Institute have identified the types of single cells that cause autoimmune diseases from patients' samples for the first time These lead to disease by avoiding "immune checkpoints." "At present, the treatment of autoimmune diseases can only solve the symptoms, but not the causes To make a more targeted treatment for the occurrence and development of diseases, we need to understand the causes first, "said Chris, author of the article Professor Goodnow said: "we have developed a technology that allows us to directly observe the cells that cause autoimmune diseases Through microscopic imaging technology, we can learn more about autoimmune diseases than ever before." The results were published in the journal Cell Because these "rogue" immune cells are very rare in blood samples (one in four hundred), it is difficult to study them Dr Mandeep Singh, the lead author of the paper, said the analysis so far only revealed "average characteristics" of cells in patient samples "Using cytogenomics, we developed a way to" magnify "these pathogenic immune cells in blood samples from four patients with pulmonary vasculitis," Dr Singh said (image source: Dr ofir sheen lumbroso) by first isolating a single cell and then separating its genetic material, the researchers isolated immune cells that produce "rheumatoid factor", a protein that targets healthy tissues and is associated with the most common autoimmune diseases, including rheumatoid arthritis After separation, the researchers analyzed the DNA and mRNA of each rogue cell to determine the cause of the disease Through their analysis, the researchers found that the pathogenic immune cells of patients with vasculitis had accumulated many mutations before producing pro-inflammatory signals Dr Joanne, CO senior author, said: "for the first time, we have identified the characteristics of gradual genetic changes in cells at the root of autoimmune diseases." It is worth noting that the researchers found that some of the initial gene mutations in these rogue cells are known to drive the development of lymphoma (cancer immune cells) "In addition, we found the occurrence of 'lymphoma driven mutations', including a variant of the CARD11 gene, which allows' rogue' immune cells to escape immune checkpoints and reproduce without restriction," explained Professor Goodnow In addition, the researchers found that cells with lymphoma driver mutations accumulated more mutations that led to the accumulation of rheumatoid factors they produced at lower temperatures "This explains the pathogenesis of vasculitis in patients In these patients, rheumatoid factors in the blood gather at cooler temperatures, close to the skin and kidneys, nerves and other organs, which can damage blood vessels and are often difficult to treat " The findings reveal the underlying causes of autoimmune diseases, and the ability to identify and study specific immune cells with this resolution has great potential for the future treatment of all autoimmune diseases Source of information: Research pinpoints rogue cells at root of autoimmune disease original source: mandeepsingh Lymphama driver mutations in the pathetic evolution of an ionic human autoantibody cell (2020) Doi: 10.1016/j.cell.2020.01.029