They discover a key gene in the memory and learning deficits of Down syndrome

A research team from the Center for Genomic Regulation (CRG) of Barcelona (Spain) has discovered a “hidden face” of a gene that is less active in the brains of people with Down’s Syndromewhich could contribute to the memory deficits observed in people living with the genetic alteration.

Down syndrome is the most common genetic disorder of intellectual disability (5 million affected worldwide), caused by the presence of an extra copy of chromosome 21, also known as trisomy 21.

The memory and learning problems of these people are related to abnormalities in the hippocampus, a part of the brain involved in learning and memory formation.

The research, published in ‘Molecular Psychiatry’initially aimed to understand how the presence of an extra chromosome affects brain cells.

Using experiments in mice and human tissues, scientists studied the Snhg11 gene and showed that low levels in the hippocampus reduce synaptic plasticity, which is crucial for learning and memory.

Before this study, Snhg11 activity was only linked to cell proliferation in different types of cancer.

The Snhg11 is the “hidden face” of the genome (complete genetic code of an organism); It is specifically a non-coding RNA molecule.

This is a special type of RNA that is transcribed from DNA, but is not encoded in the synthesis procedure, that is, it is not converted into a protein.

Until now, most of the studies have focused on genes that do code for proteins, but their “hidden faces” -which do not code- are increasingly recognized for their role in the regulation of genetic activity, the influence on genetic stability and the contribution to complex traits and diseases.

Noncoding RNAs are important regulators of several biological processes, and their atypical expression has been associated with the development of human diseases.

“We found that abnormal expression of Snhg11 leads to reduced neurogenesis and impaired plasticity, which plays a direct role in learning and memory, and indicates that the gene plays a key role in the pathophysiology of intellectual disability, stated Dr. César Sierra, first author of the article.

The lead author of the study and head of the Cellular and Systems Neurobiology research group at the Center for Genomic Regulation, Dr. Mara Dierssen, pointed out that today there are few drugs to help people with Down syndrome and that studies like this “They help lay the foundations” to be able to develop medications focused on the memory and learning deficits of these people in the future.

This study is the first evidence that a non-coding RNA plays a fundamental role in the pathogenesis (origin) of Down syndrome.

The authors of the research have confirmed that they will continue with their studies to open new avenues of intervention to strengthen intellectual capacity.