Research: very early developmental changes caused by Trisomy 21 are identified

Scientists have revealed the earliest developmental changes that lead to Down's syndrome.

The team from Barts and the Royal London (Hospitals) say the changes to embryonic stem cells are caused by the presence of an extra copy of chromosome 21.

The study, in the American Journal of Human Genetics, says the extra chromosome sets off a chain of genetic changes in the developing embryo.

Read the BBC News report here.

Reference:
Dean Nizetic et al, DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome, The American Journal of Human Genetics, 04 September 2008

Read the abstract here, and follow the links for purchasing the full text of the paper.

A list of 24 international collaborators is credited with the research, led by Dean Nizetic from the University of London, and includes Assoc. Professor Gareth Denyer, from the Department of Biochemistry, University of Sydney.