Can Fruit Flies Have Down Syndrome?

The recent study shows that a gene called DYRK, which is involved in the development of the brain, may cause Down syndrome. The condition affects approximately one out of every 700 births and occurs when individuals have three copies of human chromosome 21. Scientists from the Lawrence Berkeley National Laboratory have found that the amount of DYRK protein in cells is important for developing normal brain development and functioning. When fruit flies lack the gene, they develop abnormal brains and experience learning problems. The researchers used the fruit fly DNA sequence as a probe to find similar DNA sequences in human and mouse cells. They found that the mouse version of DYRK is active in the gray matter and the retina, regions of the brain that are deficient in people with Down syndrome.

While the disease affects humans, it is also found in a variety of other organisms. For instance, mice can develop Down syndrome if they encounter chromosomal imperfections that lead to the development of an extra chromosome 16. Because mice are not wild animals, they cannot survive in the wild. Therefore, researchers have bred mice specifically for the purpose of studying this disorder. Mice have a rounded body, huge ears, and a long tail.

When it comes to understanding Down syndrome in human beings, it is important to use animal models. The use of fruit flies and mice has helped researchers identify two critical genes responsible for congenital heart defects in humans. These defects are a major cause of death and disability in infants with Down syndrome. The researchers described the genes in a study published in the journal PLoS Genetics. In humans, elevated levels of these two genes disrupt cardiac development and function.