Denver, Colorado, March 31, 2020-Compared with typical peers, children with Down syndrome are 20 times more likely to have acute lymphoblastic leukemia (ALL), and those with acute myeloid leukemia (AML) The likelihood is 150 times higher. According to a new study by researchers at the Linda Crnic Down Syndrome Institute, the reason may be that children with Down Syndrome are more likely to develop clonal hematopoiesis (CH). In the process, blood stem cells acquire a This kind of genetic mutation promotes replication.
Research results published online by Blood Advances have added more and more evidence, most of which was established by the Crnic Institute, which distinguishes immune disorders from the spectrum of diseases, making Down’s syndrome patients extremely susceptible to certain diseases (Such as leukemia, autoimmune diseases, and Alzheimer's disease), and has a high degree of protection against other diseases (such as solid tumors).
The author of the study, Dr. Alexander Liggett, said: “We found that patients with Down syndrome between the ages of 1 and 20 have a higher incidence of CH than expected.” DeGregori, professor of biochemistry and molecular genetics. "This is a surprising finding because this phenomenon is usually only observed in elderly people."
To conduct this research, Liggitt, DeGregori and colleagues called an advanced sequencing technology they developed, called FERMI, for blood samples from the Trisomy Human Project BiobankTM of the Crnic Institute. Not only are mutations detected more frequently in young individuals with Down syndrome, but these mutations are more likely to be carcinogenic or potentially cancerous. In a typical elderly population, carcinogenic mutations are usually found in genes DNMT3A, TET2, ASXL1, TP53, and JAK2. Interestingly, in the Down syndrome cohort, oncogenic CH is dominated by mutations in the TET2 gene.
Dr. Liggett said: “Given that the clonal expansion of blood cells carrying cancer-causing mutations is accompanied by an increased risk of leukemia, these expansions may become important biomarkers of cancer risk in the future.
The study also found that CH in Down syndrome is related to the biological characteristics of immune disorders. The latter is related to diseases that usually occur concurrently with Down syndrome, including thyroiditis, Alzheimer's disease, and leukemia. This discovery opens new research directions to understand how CH affects the various health outcomes of Down syndrome and how it can potentially offset its effects.
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