Navigation Links
Important discovery for the diagnosis of genetic diseases
Date:1/16/2014

Montral, January 16, 2014 A study conducted by Marie Kmita's team at the IRCM, in collaboration with Jose Dostie at McGill University, shows the importance of the chromatin architecture in controlling the activity of genes, especially those required for proper embryonic development. This discovery, recently published in the scientific journal PLOS Genetics, could have a significant impact on the diagnosis of genetic diseases.

Each cell in the body contains a person's genetic information in the form of DNA molecules, wrapped around structures called nucleosomes. Together, the DNA and nucleosomes form the chromatin, which is the main component of chromosomes.

"Our work shows that the regulation of the activity of genes controlling embryonic development is linked to the three-dimensional organization of the chromatin," explains Dr. Kmita, Director of the Genetics and Development research unit at the IRCM. "In fact, this chromatin architecture, which varies according to the cell type, generates specific contacts between sequences of regulatory DNA and the genes they regulate."

To date, studying the causes of genetic diseases is mainly achieved through DNA sequencing and the analysis of gene sequences. However, the cause of such diseases could just as well be an anomaly in the DNA sequences that control the genes.

"It is now possible to identify regulatory DNA that controls a given gene," adds Dr. Kmita. "Our discovery paves the way for studying the mechanisms that control the architecture of chromatin, which should have a significant impact on identifying the causes and diagnosing genetic diseases."

The IRCM researchers' scientific breakthrough could have an impact on a large number of genetic diseases, including those associated with the Hox genes studied by Dr. Kmita, such as synpolydactyly (a congenital malformation characterized by the fusion of digits and the production of additional digits) and the hand-foot-genital syndrome (a genetic disease characterized by limb malformations and urogenital defects).


'/>"/>

Contact: Julie Langelier
julie.langelier@ircm.qc.ca
514-987-5555
Institut de recherches cliniques de Montreal
Source:Eurekalert

Related biology news :

1. Improved Authentication and Confidentiality Protection. ICAP Patent Brokerage Announces for Auction Important Patents in Data Encryption and Document Security
2. Misperception of weight is an important barrier to weight loss
3. Zip code as important as genetic code in childhood obesity
4. Geneticist develops tool to identify genes important in disease, tailoring individual treatment
5. Overweight? New research explains how proper sleep is important for healthy weight
6. Wildfire and an example of its important link to the ecosystem
7. University of Miami-led study finds winds played important role in keeping oil away from S. Fla.
8. Large, medically important class of proteins starts to yield its secrets
9. It must be important but what does it do? The strange case of UCP2
10. Reciprocity an important component of prosocial behavior
11. New research: Soluble corn fiber plays important role in gut health and calcium absorption
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/3/2016)... , February 3, 2016 ... market research report "Automated Fingerprint Identification System Market by ... Search), Application (Banking & Finance, Government, Healthcare, and Transportation) ... MarketsandMarkets, the market is expected to be worth USD ... 21.0% between 2015 and 2020. The transformation and technology ...
(Date:2/2/2016)... 2, 2016  BioMEMS devices deployed in ... on medical screening and diagnostic applications, such ... devices that facilitate and assure continuous monitoring ... are being bolstered through new opportunities offered ... acquisition coupled with wireless connectivity and low ...
(Date:2/2/2016)... Technology Enhancements Accelerate Growth of X-ray Imaging ... and computed radiography markets in Thailand ... Indonesia (TIM). It provides an in-depth analysis ... as regional market drivers and restraints. The study offers ... market attractiveness, both for digital and computed radiography. Market ...
Breaking Biology News(10 mins):
(Date:2/5/2016)... , Feb. 5, 2016 Australian-US drug discovery and ... today the appointment of a new Chairman, Mr John ... , effective immediately. James Garner , has ... Director and former Acting CEO, Mr Iain Ross , ... Director. --> James Garner , has also been ...
(Date:2/4/2016)... ... , ... Shimadzu Scientific Instruments will showcase several new products, ... sessions, and present on the analysis of mycotoxins and medical cannabis at the ... at the Georgia World Congress Center in Atlanta, Georgia. , Attendees should ...
(Date:2/4/2016)... and MENLO PARK, Calif. , Feb. ... ("DelMar" and the "Company"), a biopharmaceutical company focused on the ... it will present at the 18 th Annual ... 2016 at 10:00 a.m. EST in New York, ... president and CEO, will provide an update on the ongoing ...
(Date:2/4/2016)... 2016 Sinovac Biotech Ltd. ("Sinovac" or the ... biopharmaceutical products in China , today ... directors received on February 4, 2016 a preliminary non-binding ... comprised of PKU V-Ming ( Shanghai ) ... Qianhai Development ( Shenzhen ) Fund Management ...
Breaking Biology Technology: