HOME >> BIOLOGY >> NEWS
Genetic Mutations Linked To Rare Metabolic Disease

COLUMBUS, Ohio -- Researchers have identified two mutations in a single gene as the cause of a very rare metabolic disease that affects people in Finland, Norway and Saudi Arabia. It has taken nearly 40 years since the identification of the disease for researchers to trace its cause back to a faulty gene.

An international team of a dozen scientists, including those from Ohio State University, reported their discovery in the latest issue of the journal Nature Genetics.

Called megaloblastic anemia 1, or Imerslund-Grasbeck syndrome after the two researchers who first described it, the defects prevent the normal absorption of vitamin B-12. If left untreated, the disease can be fatal. While serious, the syndrome is exceedingly rare -- only one person in a million may develop this disease. The disease has also been identified in patients from Israel, Turkey, Kuwait and the United States as well.

For this study, scientists mapped the DNA of 17 Finnish patients who had the disease, comparing it to disease-free control subjects. They also looked at DNA samples from patients in Norway, as well as members of a Bedouin family in Saudi Arabia, all of whom had the disease.

Researchers have known that the disorder was autosomally recessive, that is, it occurs only when a child inherits a bad copy of the gene from each parent. People who inherit a single
'"/>

Contact: Ralf Krahe
krahe-1@medctr.osu.edu
614-688-4766
Ohio State University
3-Mar-1999


Page: 1 2 3 4

Related biology news :

1. Genetic mutations linked to the practice of burning coal in homes in China
2. Genetic differences might help distinguish thyroid cancers
3. Genetic modification of linseed produces healthier omega 3 and 6 fatty acids
4. Wiley publishes Welcome to the Genome: A Users Guide to the Genetic Past, Present, and Future
5. Genetically modified bacterium as remedy for intestinal diseases
6. Genetic analysis rewrites salamanders evolutionary history
7. Genetic map of important tree genes outlined
8. Genetically-engineered marathon mouse keeps on running
9. Genetic clues found for common congenital brain disorder
10. Genetic mutation linked to more aggressive breast cancer found more often in African-Americans
11. Genetic discovery could dramatically reduce need for liver transplants in children

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/11/2017)... Research and Markets has announced the addition of the "Global ... ... at a CAGR of 30.37% during the period 2017-2021. ... based on an in-depth market analysis with inputs from industry experts. ... the coming years. The report also includes a discussion of the ...
(Date:4/6/2017)... Forecasts by Product Type (EAC), ... End-Use (Transportation & Logistics, Government & Public Sector, Utilities ... Generation Facility, Nuclear Power), Industrial, Retail, Business Organisation (BFSI), ... you looking for a definitive report on the $27.9bn ... ...
(Date:4/5/2017)... , April 4, 2017 KEY FINDINGS ... to expand at a CAGR of 25.76% during the ... is the primary factor for the growth of the ... https://www.reportbuyer.com/product/4807905/ MARKET INSIGHTS The global stem ... technology, application, and geography. The stem cell market of ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... LINDA, CA (PRWEB) , ... October 11, 2017 ... ... to upregulate any gene in its endogenous context, enabling overexpression experiments and avoiding ... (CRISPRa) system with small RNA guides is transformative for performing systematic gain-of-function studies. ...
(Date:10/11/2017)... HILLS, Calif. , Oct. 11, 2017  SkylineDx today ... (ICR) and University of Leeds ... risk-stratify patients with multiple myeloma (MM), in a multi-centric Phase ... University of Leeds is the sponsor ... and ICR will perform the testing services to include high-risk ...
(Date:10/10/2017)... Angeles, CA (PRWEB) , ... ... ... Inc., a development-stage cancer-focused pharmaceutical company advancing targeted antibody-drug conjugate (ADC) therapeutics, ... uses of targeted HPLN (Hybrid Polymerized Liposomal Nanoparticle), a technology developed in ...
(Date:10/10/2017)... ... October 10, 2017 , ... USDM Life Sciences , ... life sciences and healthcare industries, announces a presentation by Subbu Viswanathan and Jennifer ... “Automating GxP Validation for Agile Cloud Platforms,” will present a revolutionary approach to ...
Breaking Biology Technology:
Cached News: