Immune response may affect Down syndrome
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Science and Technology Daily, Beijing, June 7 (Reporter Zhang Mengran) An animal experimental study published on Nature Genetics on the 5th found that three copies of the interferon receptor (IFNR) Gene cluster on Chromosome 21 may be related to some traits of Down syndrome, but the related mechanism still needs further research.Down syndrome is a genetic disease
Science and Technology Daily, Beijing, June 7 (Reporter Zhang Mengran) An animal experimental study published on Nature Genetics on the 5th found that three copies of the interferon receptor (IFNR) Gene cluster on Chromosome 21 may be related to some traits of Down syndrome, but the related mechanism still needs further research.
Down syndrome is a genetic disease. All cells of the patient have three copies of Chromosome 21, rather than two copies of the normal chromosome. There is a group of immune related genes in Chromosome 21, also known as IFNR Gene cluster. However, it is still unclear how this extra copy of chromosome 21 causes this disease. This disease has been studied in mice before, because mice with a redundant copy of the genome region corresponding to human Chromosome 21 also show many characteristics of human Down syndrome patients.
The team from the University of Colorado, Anshutz Medical School, USA, conducted Transcriptome analysis on the blood of 304 patients with Down syndrome (163 men and 141 women) and 96 control groups (44 men and 52 women). It was found that the overexpression of IFNR was related to the long-term overactivity of interferon and inflammation in patients with Down syndrome. For further research, they removed the third copy of the IFNR Gene cluster from mice. It was found that this reduced the hyperactive immune response previously seen in mice with three copies of the Gene cluster. The research team carried out molecular, structural and cognitive tests, pointing out that deleting the third copy of IFNR can improve many traits of Down syndrome mice, including cognitive impairment and heart problems.
The team pointed out that due to the study of mice, caution should be exercised when extrapolating the results to humans, and further research is still needed to understand the underlying mechanisms of immune response abnormalities.
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