Protein variations have a much larger impact on cell functions than expected


Computational biologists of the TUM-IAS’ Focus Group Functional Metagenomics discovered that variations in proteins have a great impact on humans. Yana Bromberg, a Fellow from Rutgers University, USA, and her host Burkhard Rost recently published a paper in Nature with Rost’s Ph.D. student Yannick Mahlich as the lead author.

Proteins, which are responsible for metabolism, growth and regeneration in the human body, consist of amino acids. Their assembly happens according to a unique DNA “fingerprint”. This leads to variations between proteins of individuals due to a different order of amino acids known as SAVs (single amino acid variants). Even though the MacArthur Lab in the USA has already assembled about 10 million of these SAVs, experimental data of their effects are only available for less than 0.01 percent of them. Therefore, the TUM researchers developed a method with the help of which effects of the SAVs can be predicted through computer simulations. Models are created using statistical methods, artificial intelligence and machine learning as well as neural networks. Even though a strong impact of SAVs on cell functions was predicted, the exact effects cannot be determined by now. Further research in this field is particularly interesting as those new insights might help developing personalized medicine, i.e. determine the best foods and drugs for the individual.

You can find the full press release here.


Yannick Mahlich, Jonas Reeb, Maximilian Hecht, Maria Schelling, Tjaart Andries Petrus De Beer, Yana Bromberg & Burkhard Rost: "Common sequence variants affect molecular function more than rare variants?", Scientific Reports 7, Article number: 1608 (2017); doi: 10.1038/s41598-017-01054-2