Mouse stem cell project results in a model of Down syndrome
23 September 2005
Researchers have produced a mouse model for human Down syndrome for the first time. It is hoped the research findings, published today in the journal Science, will shed light on our understanding of the health problems associated with a class of disorders known as 'aneuploidies' in which individuals have the wrong number of chromosome.
The MRC research, led by Dr Victor Tybulewicz (National Institute for Medical Research) and Professor Elizabeth Fisher (Institute of Neurology, University College London), was funded by the MRC and the Wellcome Trust.
Down syndrome is a genetic condition that occurs in around 1 in every 750 births. It is caused by the presence of three copies of chromosome 21 instead of the normal two. As yet, it is not clear what causes this extra chromosome to be present. To model the disorder and try to understand the effect of having an extra chromosome, the researchers manipulated mouse embryonic stem cells, by placing almost the whole of human chromosome 21 into the cells. They then used these cells to generate a mouse that carries this human chromosome to model Down syndrome.
The team has shown, in collaboration with colleagues from the new Institute of Cell and Molecular Science of Queen Mary's School of Medicine in London, the University of Newcastle, Kings College London and the MRC Prion Unit, that the new mouse strain has problems with memory, in brain function and in the formation of the heart, similar to those that can occur in people with Down syndrome.
The MRC's Dr Victor Tybulewicz who works at the National Institute for Medical Research said: "Aneuploidies are seen in at least 5% of all pregnancies and are therefore a big cause of human illness, death and miscarriage. This technology will provide a crucial genetic tool in understanding this complex human syndrome".
Professor Elizabeth Fisher of the Institute Neurology, UCL said: "People with Down syndrome have particular susceptibilities for some diseases like leukemias and autoimmune disorders. We believe this new technology will help us work out why this is, and what to do about it."
For further information, or to arrange an interview with Victor Tybulewicz contact the MRC Press Office on 020 7637 6011.
To speak to Professor Elizabeth Fisher contact the UCL Press Office on 020 7679 9739.
Note to Editors
The Medical Research Council (MRC) is a national organisation funded by the UK tax-payer. Its business is medical research aimed at improving human health; everyone stands to benefit from the outputs. The research it supports and the scientists it trains meet the needs of the health services, the pharmaceutical and other health-related industries and the academic world. MRC has funded work which has led to some of the most significant discoveries and achievements in medicine in the UK. About half of the MRC's expenditure of approximately £500 million is invested in its 40 Institutes, Units and Centres. The remaining half goes in the form of grant support and training awards to individuals and teams in universities and medical schools.
