Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Complex genetic architectures: Some common symptoms of trisomy 21

27.06.2013
Important genomic variations have been identified

Down syndrome, more commonly known as "trisomy 21" is very often accompanied by pathologies found in the general population: Alzheimer's disease, leukemia, or cardiac deficiency. In a study conducted by Professor Stylianos Antonarakis' group from the Faculty of Medicine of the University of Geneva (UNIGE), researchers have identified the genomic variations associated with trisomy 21, determining the risk of congenital heart disease in people with Down syndrome.

The targeted and specific study of chromosome 21 revealed two genomic variations, which, in combination, are the hallmark of hereditary cardiac deficiency. These results are being published in the journal Genome Research and add to other research conducted by the same team about chronic myeloid leukemia, a severe form of leukemia that often affects people with Down syndrome. The journal Blood is publishing these advances in the understanding of a disease which, like hereditary cardiac deficiencies or early Alzheimer's, affects the general population.

Heart disease is a common disorder of Down syndrome. While the presence of a third gene in the n°21 pair (which characterizes the disease) increases the risk of heart disease, it is not the sole cause: genetic variations—or polymorphisms—as well as certain environmental factors also contribute to it. Genetic variations create the diversity of human beings, their predispositions, and the differences in the expression of similar genes.

Variations increase the risk of hereditary cardiac deficiency…
As part of a study carried out on the risk of congenital heart disease in people with Down syndrome, the geneticists led by Stylianos Antonarakis who conducts the research at UNIGE's Department of Genetic and Developmental Medicine observed the dominating role of two types of polymorphisms: the nucleotide (SNP, which stands for single-nucleotide polymorphism) and the variability in the number of copies of a gene (CNV, which stands for copy number variation).

To verify these observations, the scientists created a tailor-made chromosome 21; their analyses revealed two areas of variability in the number of copies of a gene (or CNV), and one area identified by a nucleotide polymorphism (or SNP), which can be associated with the risk of heart deficiency. Therefore, this study highlights the role of two CNVs and one SNP in the cardiac pathogenesis of people with Down syndrome for the first time, revealing the genetic complexity of a common symptom of trisomy 21.

For the geneticist-authors of this study, the genetic architecture of the risk of congenital heart disease in individuals with Down syndrome must henceforth be understood as a complex combination, revealing the 21st chromosome, nucleotide polymorphism, and variability in the number of copies of a gene all at once; three factors to which we must add to the rest of the genome a still unidentified genetic variation, which Professor Antonarakis' group is already tracking.

…and also the risk of chronic myeloid leukemia
In parallel, this same group has made progress in understanding another relatively common symptom of Down syndrome, by tracking the genetic variations that identify chronic myeloid leukemia in the body's cells.

This research is itself the subject of a publication in the latest issue of the online journal Blood; like the former, it contributes to the diagnostic and therapeutic improvement of major and misunderstood disorders, pathologies that are more successfully studied in people with trisomy 21, pathologies that can affect everyone.

Stylianos Antonarakis | EurekAlert!
Further information:
http://www.unige.ch

More articles from Life Sciences:

nachricht Mass spectrometry sheds new light on thallium poisoning cold case
14.12.2018 | University of Maryland

nachricht Protein involved in nematode stress response identified
14.12.2018 | University of Illinois College of Agricultural, Consumer and Environmental Sciences

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Data use draining your battery? Tiny device to speed up memory while also saving power

The more objects we make "smart," from watches to entire buildings, the greater the need for these devices to store and retrieve massive amounts of data quickly without consuming too much power.

Millions of new memory cells could be part of a computer chip and provide that speed and energy savings, thanks to the discovery of a previously unobserved...

Im Focus: An energy-efficient way to stay warm: Sew high-tech heating patches to your clothes

Personal patches could reduce energy waste in buildings, Rutgers-led study says

What if, instead of turning up the thermostat, you could warm up with high-tech, flexible patches sewn into your clothes - while significantly reducing your...

Im Focus: Lethal combination: Drug cocktail turns off the juice to cancer cells

A widely used diabetes medication combined with an antihypertensive drug specifically inhibits tumor growth – this was discovered by researchers from the University of Basel’s Biozentrum two years ago. In a follow-up study, recently published in “Cell Reports”, the scientists report that this drug cocktail induces cancer cell death by switching off their energy supply.

The widely used anti-diabetes drug metformin not only reduces blood sugar but also has an anti-cancer effect. However, the metformin dose commonly used in the...

Im Focus: New Foldable Drone Flies through Narrow Holes in Rescue Missions

A research team from the University of Zurich has developed a new drone that can retract its propeller arms in flight and make itself small to fit through narrow gaps and holes. This is particularly useful when searching for victims of natural disasters.

Inspecting a damaged building after an earthquake or during a fire is exactly the kind of job that human rescuers would like drones to do for them. A flying...

Im Focus: Topological material switched off and on for the first time

Key advance for future topological transistors

Over the last decade, there has been much excitement about the discovery, recognised by the Nobel Prize in Physics only two years ago, that there are two types...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

ICTM Conference 2019: Digitization emerges as an engineering trend for turbomachinery construction

12.12.2018 | Event News

New Plastics Economy Investor Forum - Meeting Point for Innovations

10.12.2018 | Event News

EGU 2019 meeting: Media registration now open

06.12.2018 | Event News

 
Latest News

Data use draining your battery? Tiny device to speed up memory while also saving power

14.12.2018 | Power and Electrical Engineering

Tangled magnetic fields power cosmic particle accelerators

14.12.2018 | Physics and Astronomy

In search of missing worlds, Hubble finds a fast evaporating exoplanet

14.12.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>