Navigation Links
MUHC and McGill scientists explain genetic disease first discovered in Quebec 24 years ago
Date:1/14/2009

This release is available in French.

Scientists at the MUHC and McGill University have identified a gene essential for the uptake of vitamin B12 in human cells. The discovery of this gene finally completes a 24 year-old hunt for the cause of an incredibly rare genetic disorder called, cblF combined homocystinuria and methylmalonic aciduria (cblF-Hcy-MMA), first documented in a Quebec infant in 1985. The work, which was funded in part by the CIHR and involved collaboration among researchers in Canada, Germany, Switzerland and France, was published online in Nature Genetics this week.

Two contrasting approaches combined to crack the genetic puzzle at the heart of cblF. In Germany, Dr. Frank Rutsch and his colleagues used DNA from patients to conduct a genome scan for shared regions of DNA sequence. Simultaneously in Montreal, Isabelle R. Miousse, a graduate student of Dr. David Rosenblatt Chairman of Human Genetics and Director of the Division of Medical Genetics in Medicine at McGill conducted research that confirmed a gene on chromosome 6 could correct the cellular defect in cells from these patients. Strikingly, the vast majority of patients with this rare disease share a common mutation despite the fact that they come from different countries and different ethnic groups.

"This discovery offers the prospect of earlier diagnosis and treatment options for this disease," says Dr. Rosenblatt, who was the first to describe this rare genetic condition in 1985. "Vitamin B12 plays an important role in our lives," says Dr. Rosenblatt. "Studying rare genetic diseases like cblF-Hcy-MMA offers a window into its basic properties and how it behaves in healthy cells."

The cblF idisease is a rare genetic disorder characterized by an inability to metabolize vitamin B12. Patients afflicted with this condition build up toxic levels of homo
'/>"/>

Contact: Ian Popple
ian.popple@muhc.mcgill.ca
514-843-1560
McGill University
Source:Eurekalert

Page: 1 2

Related biology news :

1. A study by the MUHC and McGill University opens a new door to understanding cancer
2. 12 McGill researchers awarded Canada Research Chairs
3. Type 1 diabetes triggered by lazy regulatory T-cells: McGill researchers
4. Tiny genetic differences have huge consequences: McGill researchers
5. Oceanographer Dennis J. McGillicuddy, Jr. receives 34th annual Rosenstiel Award
6. McGill conference on Global Food Crisis draws impressive list of international participants
7. Boost from McGill, Gates Foundation helps Africans control pharma research
8. Key to curing obesity may lie in worms that destroy their own fat: McGill researchers
9. UK scientists working to help cut ID theft
10. Scientists show that mitochondrial DNA variants are linked to risk factors for type 2 diabetes
11. Comet probes reveal evidence of origin of life, scientists claim
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/20/2014)... who are poor experience higher cortisol levels in pregnancy ... the stress hormone, putting them at greater risk ... new research from the University of Colorado Denver. , ... Journal of Human Biology , is the first to ... the socioeconomic status of their mothers during pregnancy. , ...
(Date:8/20/2014)... for electronically manipulating the flight muscles of moths and ... those muscles. The work opens the door to the ... emergency response. , "In the big picture, we want ... moths for use in applications such as search and ... of electrical and computer engineering at NC State and ...
(Date:8/20/2014)... 2014  The second annual Biometrics UnPlugged Executive ... Tampa, Florida on September 15, 2014, ... Technology and Strategy at Samsung, and Philippe de ... of this year,s event is Mobility at the ... "Biometrics UnPlugged: Mobility at the Crossroads of Commerce ...
Breaking Biology News(10 mins):CU Denver researcher shows economic disparities impact infant health 2Research paves way for development of cyborg moth 'biobots' 2Biometrics UnPlugged: Mobility at the Crossroads of Commerce & Privacy to Feature Interactive Sessions with Samsung and Experian 2
... collaboration with colleagues from UC Berkeley and StrataGent Life ... pulsed microjet system engineered to deliver protein drugs into ... penetration injection systems cause. The research was published online ... Sciences. , The effort to create needle-free drug ...
... rise to a rare genetic disease, genetics researchers have ... broader role during human development, potentially in cases of ... of researchers identified two genes that contribute to Cornelia ... an estimated one in 10,000 children. The disease varies ...
... researchers from the National Human Genome Research Institute (NHGRI), ... identified a genetic variant that is a major contributor ... the April 6, 2007 issue of the journal Science. ... variant that accounts for differences in dog size is ...
Cached Biology News:Researchers design pulsed mircrojet system to deliver protein drugs without pain or bruising 2Gene found for rare disorder may reveal new pathway in mental retardation 2Researchers identify gene involved in dog size 2Researchers identify gene involved in dog size 3Researchers identify gene involved in dog size 4
(Date:8/19/2014)... Research and Markets  has announced the addition of the ... report to their offering. This report analyzes the ... by the following Product Segments: Media, Sera, and Reagents. ... Canada , Japan , Europe ... America . Annual estimates and forecasts are provided for the ...
(Date:8/19/2014)... XenoTech announces an exclusive partnership with ... from bioactive small molecules. Based on an ... convenient and timely assessment of critical metabolite and ... of Commercial Operations, Christian Darabant, “the value of ... be measured directly by comparison with the approximate ...
(Date:8/19/2014)... Aug. 19, 2014 /PRNewswire/ - iCo Therapeutics Inc. ("iCo" ... reported results of its Oral Amphotericin B (Oral ... The study, conducted by ImmuneCarta®, the immune monitoring ... effectiveness of Oral Amp B in reactivating ... individuals despite intensive treatment with antiretroviral therapy. ...
(Date:8/18/2014)... , Aug. 18, 2014 ... of advanced consumer medical devices said that ... was interviewed by CEOLIVE.TV as part of ... entire interview is available at http://ceolive.tv/bioelectronics-corp-otc-biel/biel-videos/2282-ceolive-tv-interview-bioelectronics-corp-otcqb-biel ... Kotak explains to investors the unique advantages ...
Breaking Biology Technology:Global Cell and Tissue Culture Supplies - Strategic Business Report 2014 2Beyond Metabolite Identification, Testable Quantities Now Offered by XenoTech 2Beyond Metabolite Identification, Testable Quantities Now Offered by XenoTech 3iCo Therapeutics Announces Positive Oral Amphotericin B Study Results 2iCo Therapeutics Announces Positive Oral Amphotericin B Study Results 3BioElectronics EVP Dr. Deepak Kotak Interviewed on CEO Live 2BioElectronics EVP Dr. Deepak Kotak Interviewed on CEO Live 3
... (NSF) has awarded $6.5 million to the Center for Nanotechnology ... work regarding the societal aspects of nanotechnology for another five ... its first five-year award of $6.2 million to Arizona State ... of NSF,s initiative to support research and education on nanotechnology ...
... DIEGO, Oct. 14 Sequenom, Inc. (Nasdaq: ... a new clinical advisory board focusing on retinal ... will provide guidance to Sequenom and Sequenom Center ... of retinal care molecular diagnostics. (Logo: ...
... ... ... ... longUrl, so we need to grab the first one. for (var r in data.results) { first_result = data.results[r]; break; ...
Cached Biology Technology:Arizona State University awarded $6.5 million to study nanotechnology and society 2Arizona State University awarded $6.5 million to study nanotechnology and society 3Sequenom Announces Formation of Ophthalmology Clinical Advisory Board 2Sequenom Announces Formation of Ophthalmology Clinical Advisory Board 3Sequenom Announces Formation of Ophthalmology Clinical Advisory Board 4Sequenom Announces Formation of Ophthalmology Clinical Advisory Board 5The World Market for Diabetes Treatments Now Available at ReportsandReports 2The World Market for Diabetes Treatments Now Available at ReportsandReports 3The World Market for Diabetes Treatments Now Available at ReportsandReports 4The World Market for Diabetes Treatments Now Available at ReportsandReports 5The World Market for Diabetes Treatments Now Available at ReportsandReports 6The World Market for Diabetes Treatments Now Available at ReportsandReports 7The World Market for Diabetes Treatments Now Available at ReportsandReports 8The World Market for Diabetes Treatments Now Available at ReportsandReports 9
... The ULS cDNA Synthesis and Labeling Kit ... hybridization experiments. First unmodified cDNA is made ... cDNA using an Oligo(dT) primer. Unlike other ... used in the reverse transcription reaction. This ...
... Dot Blot Kits overcome this limitation and ... a wide range in low-density protein array ... They are ideal for performing reverse-phase protein ... for the presence of low abundant antigens. ...
AC input: 50-60 Hz230 V...
... arraying proteins of interest with sensitive ... DiscoverLight Protein Array Kits allow for ... lysate or antibody in a low-density ... designed nitrocellulose membranes with a 384-grid ...
Biology Products: