Navigation Links
Complex genetic architectures: Some common symptoms of trisomy 21

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 n21 pair (which characterizes the disease) increases the risk of heart disease, it is not the sole cause: genetic variationsor polymorphismsas 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.


Contact: Stylianos Antonarakis
Universit de Genve

Related biology news :

1. LABS, Inc. Launches Suite of Next-Generation Test Offerings; Focuses on Expanding Complex Biologic Testing Portfolio in 2012
2. A trained palate: Understanding complexities of taste, smell could lead to improved diet
3. Structure of RNAi complex now crystal clear
4. Boosting blood system protein complex protects against radiation toxicity
5. Biological and Pharmaceutical Complex Fluids Conference
6. Programmable RNA complex could speed genome editing in the lab
7. A new avenue to better medicines: Metal-peptide complexes
8. Roots and microbes: Bringing a complex underground ecology into the lab
9. Oyster genome uncover the stress adaptation and complexity of shell formation
10. Outside a vacuum: Model predicts movement of charged particles in complex media
11. Bread wheats large and complex genome is revealed
Post Your Comments:
(Date:11/19/2015)... -- Although some 350 companies are actively involved in molecular ... according to Kalorama Information. These include Roche Diagnostics, Hologic, Abbott ... of the 6.1 billion-dollar molecular testing market, according to ... Diagnostic s .    ... one company and only a handful of companies can ...
(Date:11/17/2015)... 17, 2015 Paris from ... --> Paris from 17 th until ... biometrics innovation leader, has invented the first combined scanner in ... same scanning surface. Until now two different scanners were required: ... can capture both on the same surface. This innovation ...
(Date:11/17/2015)... EASTON, Mass. , Nov. 17, 2015 ... a leader in the development and sale of broadly ... the worldwide life sciences industry, today announced it has ... of its $5 million Private Placement (the "Offering"), increasing ... to $4,025,000.  One or more additional closings are expected ...
Breaking Biology News(10 mins):
(Date:11/30/2015)... Florida , November 30, 2015 ... specializing in the development of innovative peptide and gene-based ... metastatic disease, today announced it will be presenting at ... on December 1, 2015 at 2.30 PM PT. Dr. ... and Strategic Advisor will be giving the presentation and ...
(Date:11/30/2015)... 2015  Aytu BioScience, Inc. (OTCQB: AYTU), a commercial-stage ... will present at two upcoming investor conferences. Aytu is ... virtual conference, to be held December 3, 2015, and ... held December 2 nd & 3 rd , ... streamed live via webcast. Josh Disbrow , ...
(Date:11/30/2015)... RATON, Florida and MAGDEBURG, Germany ... Congress of NeuroRehabilitation (ECNR) in Vienna, Austria ... 3rd European Congress of NeuroRehabilitation (ECNR) in ... 2015. --> NovaVision, a wholly owned subsidiary of ... the European version of its Internet-delivered NovaVision Therapy Suite at ...
(Date:11/30/2015)... ... November 30, 2015 , ... ... integration with MarkLogic, the Enterprise NoSQL database platform provider, creating a seamless ... , Smartlogic’s Content Intelligence capabilities provide a robust set of semantic tools ...
Breaking Biology Technology: