Scientists discover second-oldest gene mutation

COLUMBUS, Ohio – A new study has identified a gene mutation that researchers estimate dates back to 11,600 B.C., making it the second oldest human disease mutation yet discovered.

Researchers with the Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute led the study and estimate that the mutation arose in the Middle East some 13,600 years ago. Only a mutation seen in cystic fibrosis that arose between 11,000 and 52,000 years ago is believed to be older.

The investigators described the mutation in people of Arabic, Turkish and Jewish ancestry. It causes a rare, inherited vitamin B12 deficiency called Imerslund-Gräsbeck Syndrome (IGS).

The researchers say that although the mutation is found in vastly different ethnic populations, it originated in a single, prehistoric individual and was passed down to that individual's descendents. This is unusual because such "founder mutations" usually are restricted to specific ethnic groups or relatively isolated populations.

The findings were published recently in the Orphanet Journal of Rare Diseases...

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