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Study tracks mutations causing CDA II back to the Roman Empire
Date:10/7/2011

dition caused in most of the cases by a mutation in the SEC23B gene. Although many different mutations have been described, only 4 mutations account for more than 50% of mutant alleles. The present study, published in the American Journal of Hematology with Dr. Roberta Russo as the first author and Prof. Achille Iolascon as the last one, compares the relative allelic frequency of SEC23B mutations in two cohorts of cases, 64 Italian and 45 non-Italian European cases. The work shows that two mutations, R14W and E109K, are relatively common in both cohorts. Nevertheless, R14W variant showed a higher recurrence in Italian CDA II patients when compared to the rest of European patients (26.3% vs 10.7%), while E109K substitution showed almost the same allelic frequency between both groups (28.0% in Italian and 25.0% in NIE).

The fact that the R14W variant is more common in Italy could be explained by a positively selected mutation, which would mean that the mutation gives some kind of genetic advantage to its carrier, or a genetic drift resulting from a so-called founder effect. The investigators explain that it is difficult to imagine that mutations that give no known phenotype in the heterozygous state, and cause a disease in the homozygous state, can be positively selected. Therefore they suggest the second option as the most likely to explain the higher presence of the R14W variant in the Italian population.

A founder effect implies that identical mutant genes we see today have a single ancestral origin. The spread of the mutant gene may have been greatly favoured if at some stage a small population in which the gene was present has undergone rapid expansion. With a genetic analysis, called Haplotype analysis, it is possible to provide estimates for the time of origin of a founder mutation.

The cases analyzed by the p
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Contact: Alex Argemi
aargemi@clinic.ub.es
34-932-275-700
IDIBAPS - Institut d'Investigacions Biomdiques August Pi i Sunyer
Source:Eurekalert

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