Mice with down syndrome offer new ways for better understanding of the disorder
Researchers around the world commonly use mouse models in the research study of human conditions to progress the quest for treatments and medications. Currently, a new mouse replica of Down syndrome has been developed and characterized by Johns Hopkins Medicine researchers and their collaborators. Simulating down syndrome in laboratory animals is a great challenge.
The outcomes of the study are published in the journal eLife Sciences on June 29, 2020.
The new animal model might assist researchers better understand how individuals with Down syndrome learn and develop, and ultimately, result in new treatments for potentially deadly issues of the problem, such as thyroid and heart-related disease.
Trisomy 21 – Down syndrome is caused when an individual is born with an extra partial or entire copy of chromosome 21. People with Down syndrome normally have developmental delays and distinct facial features. They also experience difficulties with learning and memory, higher rates of thyroid, blood, and immune-related disorders, and diseases. Treating these diseases in people with Down syndrome is difficult by their genetics.
Roger Reeves, Ph.D., professor of physiology at the Johns Hopkins University School of Medicine said that
there are more than 500 genes on chromosome 21 that can be overexpressed. Hence, Down disorder is vastly much more intricate in comparison to many other genetic problems.The lack of an accurate animal model to study the biology of Down syndrome and test possible therapies makes the development of an effective treatment complex.
Reeves and his group aspired to enhance research efforts by developing a much more exact replica of the syndrome in mice models. The experiment was carried out by inserting a human copy of chromosome 21 into mice using the rodent’s own cellular structures that organize DNA, this makes it possible for the mouse cells to accurately copy and sort the extra human chromosome into new cells as they divide. Likewise, it lets the mice pass the added genetic material on to the next generation.
These mice were named as TcMAC21 by the researchers, and in long-term experiments, they can be used relatively easily and inexpensively.
Many features indicative of Down syndrome in humans were also seen in the TcMAC21 mice. The features include a distinct facial structure, learning difficulties, a greater occurrence for congenital heart defects, and a smaller-than-usual cerebellum.
The scientists forewarn that a human condition or disease can’t be perfectly replicated in animal models. But, they believe that the TcMAC21 mouse model developed in this research study is an excellent beginning point to develop new and better methods for aiding in treating the Down syndrome.
Reeves said that the goal is to enhance the health of individuals with Down syndrome to provide the most effective opportunity at achieving their complete potential.
Author: Sruthi S
