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Decode genetics logo9/25/2023 "The discoveries presented in this paper are based on the sequential application of genomics, transcriptomics and proteomics the combination of these three omics in a hypothesis independent manner yields a remarkably powerful approach to the study of human disease," says Kari Stefansson, CEO of deCODE genetics and senior author on the paper.īased in Reykjavik, Iceland, deCODE is a global leader in analyzing and understanding the human genome. Saedis Saevarsdottir, scientist at deCODE genetics and first author on the paper "This report describes a novel major risk gene for several autoimmune diseases, discovered through a genome-wide study on autoimmune thyroid disease, and how the risk variant affects the gene product, FLT3, and consequently the level of the ligand to the FLT3 receptor in blood, thereby demonstrating its functional importance," says Prof. Hence, this variant is a loss of function mutation that through compensatory increase in the level of the ligand, acts as a gain of function. This molecular couple, the FLT3 receptor and its ligand, has a key role in the development of blood cells that are important in both acute myeloid leukemia and immune responses. It turns out that the variant introduces a stop codon in one-third of the transcripts, which results in a shorter protein that lacks the kinase part, which is essential for its function.įinally, this variant in FLT3 affects the plasma levels of several other proteins in the body, especially the ligand of FLT3, resulting in almost double the level in carriers. Third, it is quite remarkable that this variant in FLT3, which is in an intron of the gene and does not directly affect coding sequence, can have so strong effect on disease risk. It turned out that it almost doubles the risk of AML, but not the risk of cancer overall. Therefore, the scientists tested whether this FLT3 germline variant, affects the risk of AML like it increases the risk of autoimmune diseases. Second, it is known that activating somatic mutations in the FLT3 gene associate with acute myeloid leukemia (AML). Furthermore, patients with these diseases are quite often affected by autoimmune thyroid disease as well. These diseases are all characterized by autoantibodies and are more common in women than men. One of the newly discovered sequence variants is in a gene that codes for the FLT3 receptor (fms-related tyrosine kinase 3) on blood cells and immune cells, and is of large interest for several reasons.įirst, it strongly increases the risk of autoimmune thyroid disease and other autoimmune diseases, both systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and celiac disease.
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