Navigation Links
Identification of genetic mutations involved in human blood diseases
Date:4/28/2014

A study published today in Nature Genetics has revealed mutations that could have a major impact on the future diagnosis and treatment of many human diseases. Through an international collaboration, researchers at the Montreal Heart Institute (MHI) were able to identify a dozen mutations in the human genome that are involved in significant changes in complete blood counts and that explain the onset of sometimes severe biological disorders.

The number of red and white blood cells and platelets in the blood is an important clinical marker, as it helps doctors detect many hematological diseases and other diseases. Doctors can also monitor this marker to determine the effectiveness of therapy for certain pathologies.

"Complete blood counts are a complex human trait, as the number of cells in the blood is controlled by our environment and the combined expression of many genes in our DNA," explained Dr. Guillaume Lettre, a study co-author, an MHI researcher, and an Associate Professor at the Faculty of Medicine at Universit de Montral.

In collaboration with their colleagues at the University of Washington in Seattle and the University of Greifswald in Germany, these MHI researchers analyzed the DNA of 6,796 people who donated specimens to the MHI Biobank by looking specifically at segments of DNA directly involved in protein function in the body. They specifically identified a significant mutation in the gene that encodes erythropoietin, a hormone that controls the production of red blood cells. "Subjects who carry this mutation in their DNA have reduced hemoglobin levels and a 70% greater chance of developing anemia," explained Dr. Lettre. The scientists also identified a mutation in the JAK2 gene, which is responsible for a 50% increase in platelet counts and, in certain cases, for the onset of bone marrow diseases that can lead to leukemia. Dr. Jean-Claude Tardif, Director of the MHI Research Centre, Full Professor at the Faculty of Medicine at Universit de Montral, and a study co-author, added that "after reviewing pre-existing clinical data from the MHI Biobank, we observed that these donors also had a higher risk of having a stroke during their lifetime."

Dr. Lettre believes that these findings are very encouraging, as they suggest that the experimental approach used in the study can be applied to other human diseases. "Thanks to the existing genetic data and wealth of other clinical information available from the MHI Biobank, we will be able to identify other rare genetic variations that may impact the risk of cardiovascular disease and open the door to the development of new therapies."


'/>"/>

Contact: Anne-Julie Ouellet
anne-julie.ouellet@icm-mhi.org
514-376-3330 x2700
Montreal Heart Institute
Source:Eurekalert

Related medicine news :

1. Large-scale identification and analysis of suppressive drug interactions
2. Ethnic identification helps Latina adolescents resist media barrage of body images
3. FDAnews Announces The FDA Unique Device Identification (UDI) Rule Virtual Conference
4. Voices Against Brain Cancer Commends Researchers for the Identification of an Important Protein that May Give Insight to More Effective Glioblastoma Treatments
5. Stryker Hip Recall Update: FDA Announces Launch of New Medical Device Identification System to Better Target Recalls, Improve Patient Safety
6. bioMérieux Announces U.S. FDA Clearance for VITEK® MS, a Revolutionary Technology Which Reduces Microbial Identification from Days to Minutes
7. Lifetag Medical Id Creator Recommends the Fastest Way to Speed Up A Medical Diagnosis During a Disaster is To Carry Medical Identification
8. bioMérieux Partners with Ultimate Labs to Bring Unprecedented Speed to Pathogen Identification for Food, Drug, and Cosmetic Manufacturers
9. Lawsuit Filed Against Montgomery County Coroner’s Office on Behalf of Indiana Women Whose Husband was Cremated Following Misidentification, by Wright & Schulte LLC
10. Adding Patient Photos to X-Rays May Cut Identification Errors
11. Lyme Disease Prevention Begins with Proper Tick Identification and Timely Removal.
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/10/2016)... ... February 10, 2016 , ... Western University ... health services to the developmentally disabled in the Coachella Valley. , The two ... new facility at 71-949 Highway 111, Suite 100-B, in Rancho Mirage, California. The ...
(Date:2/10/2016)... ... February 10, 2016 , ... As part of its ongoing ... February 2016. Each webinar features a dynamic expert and thoughtful presentation to give ... patients and facilities. Both events are free to attend, but registration is ...
(Date:2/10/2016)... (PRWEB) , ... February 10, 2016 , ... ... American Academy of Emergency Medicine , an emergency medicine professional association, ... practice management services . , The American Academy of Emergency Medicine, or AAEM, ...
(Date:2/10/2016)... ... 2016 , ... The Wickman Agency in Garland, TX has ... community. Pledging to select a new beneficiary every 60 days, the agency will ... is to bring community awareness to important local causes by forming campaigns which ...
(Date:2/10/2016)... ... February 10, 2016 , ... 10 Best Water ... were three leading bottled water brand owners that topped the list as a result ... and optimize conversion. The premier brand was Tibet 5100, a top notch water company ...
Breaking Medicine News(10 mins):
(Date:2/10/2016)... Mylan N.V. (NASDAQ, TASE: MYL) today announced ... December 31, 2015. --> --> ... revenues of $9.45 billion, up 28% on a constant ... of $9.43 billion. Excluding the impact of the acquisition ... generics business (the "EPD Business"), full year adjusted total ...
(Date:2/10/2016)... , Feb. 10, 2016  Resolve Therapeutics, LLC, ... new approaches to the treatment of lupus and ... a multiple ascending dose study in patients with ... RSLV-132. --> --> ... multiple ascending dose study of RSLV-132 in 32 ...
(Date:2/10/2016)... , Feb. 10, 2016  Rich Pharmaceuticals, Inc. (OTC ... a 1-for-100 reverse split of its issued and outstanding ... trading on Thursday, February 11, 2016. The Company,s common ... CUSIP number 76303T308 and temporary ticker symbol "RCHAD". After ... under the ticker symbol (RCHA).  --> ...
Breaking Medicine Technology: