B12 Deficiency: Second Oldest Gene Mutation Discovered

Monday, December 19, 2011 - 13:01 in Biology & Nature

A gene mutation dating back to 11,600 B.C. is the second oldest human disease mutation discovered so far. The investigators described the mutation in people of Arabic, Turkish and Jewish ancestry, which causes a rare, inherited vitamin B12 deficiency called Imerslund-Gräsbeck Syndrome (IGS). The mutation is found in different ethnic populations but it originated in a single, prehistoric individual and was passed down to that individual's descendants. The researchers say this is unusual because such "founder mutations" usually are restricted to specific ethnic groups or relatively isolated populations.  read more

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