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Scientists identify genetic trigger for Down’s effects

Posted in Scientific research by Matt at WelcometoIllinois on September 4, 2008

Scientists in the UK are claiming to have identified the trigger that results developmental changes cased by Down’s syndrome, according to this press release.  In a study published in the American Journal of Human Genetics, they describe how they have “revealed the earliest developmental changes in embryonic stem cells caused by an extra copy of human chromosome 21”.

According to the release, “They discovered that extra chromosome 21 – a genetic state known as trisomy 21 – disturbs a key regulating gene called NRSF or REST, which in turn disturbs the cascade of other genes that control normal development at the embryonic stem cell stage. Furthermore, they identified one gene (DYRK1A) on human chromosome 21, whose overdose in trisomy (DS) is responsible for the observed effects.”

The release also quotes Dean Nizetic, Professor of Cellular and Molecular Biology at Barts and The London School of Medicine and Dentistry, as stating that it is hoped “that further research might lead to clues for the design of new therapeutic approaches tackling developmental delay, mental retardation, ageing and regeneration of brain cells, and Alzheimer’s disease”.

It also notes that Down’s syndrome “is more common than muscular dystrophy and cystic fibrosis, but the development of new therapeutic concepts is hindered by the fact that unlike muscular dystrophy and cystic fibrosis, where a single mutated gene causing the disease is known, the entire human chromosome 21 (containing around 300 genes) still has to be dissected into individual gene-dose contributions to the DS symptoms”.

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  1. […] some people. It’s not something I’ve spent too much time thinking about but as I have previously reported, it could potentially lead to improved understanding of, and treatment for, the effects of […]


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