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Phoenix666 writes:

The genetic material of any two individuals can be clearly distinguished. Computational biologists at the Technical University of Munich (TUM) have now determined that the impact of DNA variations has been greatly underestimated. The new insights could impact advances in personalized medicine.

Proteins are the machinery of life. Without them, no cell can function. About 20,000 proteins are responsible for metabolism, growth and regeneration in the human body. The building blocks of proteins are amino acids. These are assembled in the cell according to a defined blueprint contained in DNA.

An extensive study involving blood samples of 60,000 people has shown that surprisingly wide variations exist between the proteins of healthy individuals. In two non-related individuals, on average 20,000 building blocks—i.e. amino acids—have differences known as SAVs (single amino acid variants). The MacArthur Lab in the U.S. has assembled about 10 million of these SAVs.

[...] The computational biologists cannot determine the exact nature of the effects, however. The variations might, for example, affect our ability to detect smells or might result in differences in metabolism; they might lead to disease, or increase the immunity to pathogens. They can also affect an individual's response to environmental influences or medications. "None of these effects might be detected in everyday life," says Prof. Rost. "But under certain conditions, some of them could become significant—for example, when we are given a certain drug or are exposed to a certain influence for the first time."

In his view, the effects of the protein variations cannot be simply categorized as good or bad. "The comparison of the effects of the variations between individuals as well as between humans and related species suggests that every species tries out many variations." These may even be detrimental to individuals under today's conditions. But if the environmental conditions change, it is conceivable that the same variations might help the species to survive.

More information: Yannick Mahlich et al, Common sequence variants affect molecular function more than rare variants?, Scientific Reports (2017). DOI: 10.1038/s41598-017-01054-2

Understanding how the protein variations work can make personalized medicine possible, such that drug side effects can be minimized or eliminated, diets can be customized, and the like.

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