Look Beyond the Extra Chromosome
By taking a step back and looking at the entire cell, researchers were able to create a new understanding of these syndromes. Researchers took a critical look at recent evidence suggesting that Down syndrome phenotypes arise not only because of increased dosage of genes on chromosome 21 but also because of global effects of chromosome gain.
They sifted through published datasets of proteins and RNA from individuals with Down syndrome and compared these to laboratory-made cells with trisomies of chromosomes 3, 5, 12, and 21.The researchers discovered that regardless of which chromosome was in excess, the cells all had a reduced ability to replicate, survive, and maintain their DNA.
Discovering More from Down Syndrome Research
Later, researchers were interested in finding out why cells with imbalanced chromosomal content𡟙n other words, aneuploid cells 㻡re capable of surviving. It was particularly exciting for them to learn if viable aneuploid embryonic cells have similarities with aneuploid cancer cells or cell lines, derived in the laboratory.
Additionally, they found that the adaptive T-cell immune system was underdeveloped in all cells, while the innate immune system seemed to be overactive. They suggest that this is a consequence of general chromosome gain. This research can be expanded into autoimmune diseases, such as Alzheimer’s disease or acute leukemias in trisomy Chr. 8 or 21, that also exist without any connection to aneuploidy.
Researchers hope that the work elucidating a complex trisomy phenotype should help to improve development in children affected by these diseases.