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
copy of the gene from each parent. People who inherit a
Contact: Ralf Krahe
Ohio State University