Study tracks mutations causing CDA II back to the Roman Empire

Friday, October 7, 2011 - 10:00 in Biology & Nature

Many of you might know that Congenital Dyserythropoietic Anemia type II (CDA II) is a rare blood disorder, due to a failure in final part of erythropoiesis. What will surprise you is the fact that some mutations responsible for the disease can be tracked 3.000 years back. A study led by the ENERCA member Prof. Achille Iolascon, from CEINGE Advanced Biotechnologies (Naples, Italy) and the University of Naples Federico II, analyzes two mutations (E109K and R14W) of the SEC23B gene and discovers one of them is responsible for the higher frequency of CDA II in Italian population. The first mutation, E109K, may have originated in the Middle East about 2.400 years ago and may have spread in the heyday of the Roman Empire. The other one may have originated in Southern Italy about 3.000 years ago.

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