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:4/3/2017)... , April 3, 2017  Data captured ... engineering platform, detected a statistically significant association ... prior to treatment and objective response of ... potential to predict whether cancer patients will ... treatment, as well as to improve both pre-infusion ...
(Date:3/30/2017)... 2017 The research team of The Hong ... fingerprint identification by adopting ground breaking 3D fingerprint minutiae recovery and ... speed and accuracy for use in identification, crime investigation, immigration control, ... ... A research team led ...
(Date:3/29/2017)... CHICAGO , March 29, 2017  higi, the ... ecosystem in North America , today ... Partners and the acquisition of EveryMove. The new investment ... extensive set of tools to transform population health activities ... and lifestyle data. higi collects and secures ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... ... October 10, 2017 , ... ... targeted antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights that give it ... Nanoparticle), a technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). ...
(Date:10/10/2017)... SANTA CRUZ, Calif. , Oct. 10, 2017 /PRNewswire/ ... SBIR grant from the NIH to develop RealSeq®-SC (Single ... preparation kit for profiling small RNAs (including microRNAs) from ... Cell Analysis Program highlights the need to accelerate development ... "New techniques for ...
(Date:10/9/2017)... Jupiter, FL (PRWEB) , ... October 09, 2017 , ... ... episode, scheduled to broadcast first quarter 2018. American Farmer airs Tuesdays at 8:30aET on ... Agriculture industry is faced with the challenge of how to continue to feed a ...
(Date:10/7/2017)... ... October 06, 2017 , ... With ... microscopy and surface analysis, Nanoscience Instruments is now expanding into Analytical Services. ... range of contract analysis services for advanced applications. Services will leverage techniques ...
Breaking Biology Technology:
Cached News: