Curr Biol: a new discovery of Down's syndrome

February 24, 2020 / BIOON / -- recently, researchers from Montreal University and other institutions found a new mechanism related to Down's syndrome The findings of the study are published in the journal Current Biology Down syndrome (SD), also known as trisomy 21 syndrome, is a genetic disease Down's syndrome is one of the main causes of mental disability and congenital heart disease in children About one in 800 children in Canada has Down's syndrome In these patients, many genes have abnormal expression at the same time, so it is difficult to determine which genes lead to which differences (image source: www Pixabay Com) in a recently published study, Professor jannic Boehm's team focused on RCAN1, which is overexpressed in the brain of Down's syndrome fetuses The team's work provides insight into how genes affect the way diseases behave The human brain is made up of hundreds of billions of cells called neurons They communicate with each other through synapses As time goes by, the ability of synaptic signal transmission to increase or decrease is called "synaptic plasticity" This is an important biological phenomenon, because it is very important for memory and learning Professor Boehm said: "there are two effects of synaptic plasticity: long-term enhancement can enhance synapses and improve the interaction between neurons; long-term inhibition can weaken the ability of synaptic signal transmission." "We already know that synaptic plasticity is affected by certain proteins," said Anthony dudilot, one of the first authors of the study For example, calcineurin is inhibited during induction of long-term potentiation, but activated at the beginning of long-term inhibition However, the molecular mechanism of calcineurin regulation is not clear The team found that the various signaling pathways that trigger synaptic enhancement or inhibition can converge to the RCAN1 molecule They also determined that the gene has the ability to inhibit or promote calcineurin activity Given its dual role as an inhibitor / promoter, the researchers concluded that RCAN1 acts as a "switch" regulating synaptic plasticity, thereby affecting learning and memory (BIOON Com) information source: major discovery in the genetics of Down syndrome original source: Anthony dudilot et al RCAN1 regulations bidirectional synthetic plastics, Current Biology (2020) Doi: 10.1016/j.cub.2020.01.041