Navigation Links
Complex genetic architectures: Some common symptoms of trisomy 21
Date:6/26/2013

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
stylianos.antonarakis@unige.ch
41-223-795-708
Universit de Genve
Source:Eurekalert

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:
*Name:
*Comment:
*Email:
(Date:3/30/2017)... , March 30, 2017 The research team ... for three-dimensional (3D) fingerprint identification by adopting ground breaking 3D fingerprint ... new realm of speed and accuracy for use in identification, crime ... affordable cost. ... A ...
(Date:3/29/2017)... 29, 2017  higi, the health IT company that ... North America , today announced a Series B ... of EveryMove. The new investment and acquisition accelerates higi,s ... to transform population health activities through the collection and ... higi collects and secures data today on behalf ...
(Date:3/27/2017)... ROCKVILLE CENTRE, N.Y. , March 27, 2017 ... by Healthcare Information and Management Systems Society (HIMSS) ... Analytics Outpatient EMR Adoption Model sm . In ... top 12% of U.S. hospitals using an electronic ... recognized CHS for its high level of EMR ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ... today it will be hosting a Webinar titled, “Pathology is going digital. Is ... , on digital pathology adoption best practices and how Proscia improves lab economics ...
(Date:10/11/2017)... ... October 11, 2017 , ... Singh Biotechnology today ... designation to SBT-100, its novel anti-STAT3 (Signal Transducer and Activator of Transcription 3) ... able to cross the cell membrane and bind intracellular STAT3 and inhibit its ...
(Date:10/10/2017)... Parks Associates announced today that Tom Kerber , Director ... , October 11 in Scottsdale, Arizona . Kerber will ... safety and security products impact the competitive landscape. ... Parks Associates: Smart Home Devices: Main Purchase Driver ... "The residential security market has experienced continued growth, and the introduction of ...
(Date:10/9/2017)... ... October 09, 2017 , ... The award-winning American Farmer television series will feature ... Farmer airs Tuesdays at 8:30aET on RFD-TV. , With global population estimates nearing ... how to continue to feed a growing nation. At the same time, many of ...
Breaking Biology Technology: