Neanderthals Had Fatty Liver Disease, Study Finds in PTA Journal

A joint research project between the University Hospitals of Würzburg and Homburg and the Max Planck Institute for Evolutionary Anthropology in Leipzig provides new insights into the evolutionary basis of human metabolic diseases. The most recent version of the gene responsible for fatty liver disease dates back to before the Neanderthal split. The frequency of the PNPLA3 gene variant in the ancient genomes of these archaic humans was 100 percent, possibly due to an advantage in cold adaptation, the scientists report in their study.

It used to be a protective factor, today it is a risk factor

Nowadays, fatty liver disease is considered a disease and is a risk factor for liver fibrosis and cirrhosis and even hepatocellular carcinoma. In addition to unhealthy diet and lifestyle, the presence of certain alleles is also associated with an increased risk of fatty liver disease.

News for the research team. In particular, the rs738409 gene variant of the PNPLA3 gene is a major factor in the development of fatty liver disease. The PNPLA3 gene encodes an enzyme involved in fat metabolism in the liver.

A specific variant of this gene, rs738409, is associated with an increased risk of fatty liver disease. Early humans more than 40,000 to 65,000 years ago had 100 percent of this risk allele, according to the study. For comparison, only the wild type was represented among primates.

Hereditary “fatty liver gene”.

The team assumes a possible survival advantage. The ability to store fat more quickly was particularly advantageous during the Ice Age at the time. It goes on to say that it cannot be definitively clarified whether we inherited the “fatty liver gene” from Neanderthals, but it seems likely that one of the many PNPLA3 variants came from the Neanderthal genome.

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