American researchers from the Ohio University Cancer Center (Ohio State University Comprehensive Cancer Center) described a mutation that causes a rare incurable disease, Imerslund-Grensbek Syndrome (Imerslund-Gr? Nsbeck Syndrome, IGS).
It is shown that a genetic defect that is currently found in people of different ethnic groups – Arabs, Turks and Jews – occurred 11,600 years before our era in a prehistoric individual in one of the ancestral populations, according to Eurekalert!
The wide spread of the ancient mutation surprised scientists, because usually the founder mutation does not go beyond the limits of a relative isolated population or the ethnic group in which it originated.
“Diagnosing IGS is a long-term business, and its results can be ambiguous, because vitamin B12 deficiency can be due to different reasons,” explains one of the authors of the study, Steven M. Tanner. “Our discovery opens up possibilities for reliable diagnostics in cases of suspected IGS, and this mutation in the genetic screening of people of Arab, Turkish and Jewish origin should be sought first of all,” he says.
The work of American geneticists published in the Orphanet Journal of Rare Diseases.
IGS was identified about 50 years ago; it is a rare recessively inherited form of anemia, in which the absorption of vitamin B12 is impaired by the defeat of the intestinal epithelium. This disease manifests itself, as a rule, in the first two years of life.
Children with IGS are at greater risk of infection, are more fatigued and lack attention. If such patients do not receive regular injections of vitamin B12, they inevitably develop anemia with a fatal outcome.
The mutation that determines the development of IGS is the second oldest mutation. The first, the occurrence of which was dated from 11,000 to 52,000 years ago, was a mutation that causes cystic fibrosis.