Nat Neurosci: DNA repeat element maintains neuron function

February 19, 2020 / BIOON / -- more than half of our genome consists of repetitive elements in DNA In rare cases, these repeats become unstable and amplified "Amplification" of these repeat elements can lead to neurodegenerative diseases such as ALS and dementia, as well as fragile X syndrome and autism So far, many studies have focused on how these amplified repeats cause diseases, but little attention has been paid to the repeats themselves and whether they have normal functions in genes (image source: www Pixabay Com) by focusing on the biological characteristics of healthy nerve cells, Professor Peter Todd, associate professor of Neuroscience at the University of Michigan and chief researcher, etc., found that repetitive elements in genes in fragile X syndrome regulate the way and time of protein synthesis in neurons under normal conditions This process may be important for people's learning and memory Scientists have found that the repeat sequence and translation of fragile X syndrome gene head will slow down the production of fragile X protein, which is very important for learning and memory However, when neurons are stimulated, the translation level of this repetitive element decreases, and the level of fragile X protein at the synapse (the connection between neurons) increases, indicating that repetition and its translation regulate the production of this protein and the local distribution in neurons With this finding about how the repeat sequence functions normally, the team developed antisense oligonucleotides (ASOs), a modified short DNA strand, in cooperation with Ionis pharmaceuticals, which can specifically target the transcripts of defective genes to correct abnormalities The results showed that ASO stimulation could reduce the toxicity of these repeats in rodent and human neurons Secondly, the blocking of retranslation leads to a large increase of fragile X protein expression, and the loss of activity of the latter leads to fragile X syndrome All in all, this study provides a novel way for the treatment of such nervous system diseases The results were published in nature neuroscience Source of information: release causing repeats help human neurons function, study finds original source: a native function for ran translation and CGG repeats in regulating fragment X protein synthesis, Nature Neuroscience (2020) Doi: 10.1038/s41593-020-0590-1, https://nature.com/articles/s41593-020-0590-1