Down syndrome

Newborns with Down syndrome, as they grow, face a higher risk of developing leukemia compared to those without the syndrome. An international team has sequenced the genes of more than 1.1 million cells from fetuses with and without Down syndrome, and it has discovered that the extra chromosome 21 they have alters the way DNA is packaged inside cells. According to the authors, whose research is published in Nature, this difference affects the regulation of certain genes and may contribute to the development of leukemia.

A team of researchers at the Centre for Genomic Regulation in Barcelona (CRG) has found that a region of the genome is less active in model mice and people with Down's syndrome. This region is found in the so-called dark genome and does not code for a protein. According to the authors of the study, this "leads to reduced neurogenesis and impaired plasticity, which play a direct role in learning and memory". The results are published in the journal Molecular Psychiatry.

A team of researchers led by the Max Planck Institute for Evolutionary Anthropology in Germany has analysed nearly 10,000 ancient genomes and found six cases of people with Down's syndrome and one with Edwards' syndrome. Most of them died before or shortly after birth. The findings correspond to different periods up to 5,500 years old and several of them have been found in Navarra. According to the authors, "the care with which the burials were carried out and the objects found with these individuals indicate that ancient societies probably treated people with trisomies 18 and 21 as members of their communities". The findings are published in Nature Communications.

People with Down syndrome often have heart problems, which can affect their life expectancy. However, the genes responsible among the 230 possible candidates were not known. A team of researchers used human tissue and mouse embryonic hearts and concluded that an extra copy of the DYRK1A gene is important in the process. In addition, they have tested a treatment in early gestation in mouse models that reduces its consequences. The research is published in Science Translational Medicine.

Researchers have tested a gonadotropin-releasing hormone (GnRH) therapy in mouse models and in males (in a pilot clinical trial) with Down's syndrome. The results, published in the journal Science, suggest improved cognitive function.