Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists reveal changes to embryonic stem cells caused by Down syndrome

08.09.2008
Scientists investigating the mechanisms of Down Syndrome (DS) have revealed the earliest developmental changes in embryonic stem cells caused by an extra copy of human chromosome 21 – the aberrant inheritance of which results in the condition. Their study is published online today (Thursday 4 September) in the American Journal of Human Genetics.

Lead by Dean Nizetic, Professor of Cellular and Molecular Biology at Barts and The London School of Medicine and Dentistry, the team utilised embryonic stem cells from a previously genetically engineered species of mice carrying a copy of human chromosome 21.

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.

Down Syndrome belongs to the group of conditions called 'aneuploidies', defined by an abnormal loss or gain of genetic material, i.e. fragments of chromosomes or whole chromosomes. Aneuploidies cause congenital anomalies that are a prime cause of infant death in Europe and the USA, and are currently on the increase with advancing maternal age in European countries. The number of people with DS in Europe exceeds half a million. The condition 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.

... more about:
»Chromosome »Embryonic »Genetic »Stem

Professor Nizetic, calling for further research into the components of the disturbed cascade he and his team have revealed said; "We hope 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. In other words, we hope our work will open new routes to tackle the genetics of these health disorders, approaching them from the "back entrance", as dominant component-symptoms of Down Syndrome."

Alex Fernandes | EurekAlert!
Further information:
http://www.qmul.ac.uk

Further reports about: Chromosome Embryonic Genetic Stem

More articles from Life Sciences:

nachricht Water forms 'spine of hydration' around DNA, group finds
26.05.2017 | Cornell University

nachricht How herpesviruses win the footrace against the immune system
26.05.2017 | Helmholtz-Zentrum für Infektionsforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Can the immune system be boosted against Staphylococcus aureus by delivery of messenger RNA?

Staphylococcus aureus is a feared pathogen (MRSA, multi-resistant S. aureus) due to frequent resistances against many antibiotics, especially in hospital infections. Researchers at the Paul-Ehrlich-Institut have identified immunological processes that prevent a successful immune response directed against the pathogenic agent. The delivery of bacterial proteins with RNA adjuvant or messenger RNA (mRNA) into immune cells allows the re-direction of the immune response towards an active defense against S. aureus. This could be of significant importance for the development of an effective vaccine. PLOS Pathogens has published these research results online on 25 May 2017.

Staphylococcus aureus (S. aureus) is a bacterium that colonizes by far more than half of the skin and the mucosa of adults, usually without causing infections....

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

How herpesviruses win the footrace against the immune system

26.05.2017 | Life Sciences

Water forms 'spine of hydration' around DNA, group finds

26.05.2017 | Life Sciences

First Juno science results supported by University of Leicester's Jupiter 'forecast'

26.05.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>