Study explores how genes and small molecules influence disease risk |  Sciences-Environment

Study explores how genes and small molecules influence disease risk | Sciences-Environment

Each individual has an individual chemical fingerprint. The composition of small molecules in the blood, such as fats or sugars, determines how our body reacts to outside influences, the illnesses we are susceptible to, and the severity of an illness. In an international collaboration with partners in Cambridge (UK), scientists from the Berlin Institute of Health at the Charite (BIH) have discovered more than 300 regions of the genome that contribute to this individual chemical fingerprint. They have now published their findings in Nature Medicine.

Our body continuously processes thousands of small molecules to maintain our metabolism and therefore our health. Even small changes can cause disease, and metabolism is as individual as the person. BIH scientists have now discovered rare and common changes in the genetic code that influence personal chemical fingerprinting and individual disease profile. “With our study, we are finally shedding light on the genetic control of our metabolism based on several hundred small metabolites, which has never been shown in such detail,” says Professor Claudia Langenberg, Head of the Department of Computational Medicine, adding: “This means we now better understand how and why genetic differences contribute to disease development.”

Blood samples from 20,000 participants Scientists measured the number of small molecules, such as sugars, fats or hormones, from blood samples from around 20,000 participants in two large population-based studies to study the influence of the genome. They have identified regions of the genome that are linked to many, often very different, metabolites.

“These metabolic ‘hotspots’ in the genome have helped us better understand which genes are relevant to changing amounts of molecules in the blood,” says Professor Claudia Langenberg. “With these new findings, we were then able to show which changes in metabolism contribute to the development of individual diseases, such as breast cancer,” she adds. Metabolism also determines the effects of drugs

The results show that metabolism not only contributes to the maintenance of health or the development of disease, but also significantly determines the effectiveness or sometimes the harmfulness of drugs. For example, scientists found a common variation in the genetic code close to the DPYD gene in about one-fifth of study participants. DPYD codes for the product, called an enzyme, which is responsible for breaking down certain cancer drugs and people who harbor these genetic variants are at increased risk of building up toxic levels in their blood. This means that genetic testing can tailor treatment decisions.

“Variations near genes that are also the target of drugs can give us clues to possible undesirable side effects. For example, we were able to show that drugs that reduce the conversion of steroid hormones in the body and thus counteract male hair loss and a prostate.” enlargement may increase the risk of depression, which is consistent with reports from drug studies,” she explains. Scientists have also identified numerous examples of the influence of metabolites on various diseases, including an increased blood concentration of homoarginine which increases the risk of chronic kidney disease. This is relevant because the administration of homoarginine is currently being tested for the prevention of cardiovascular disease. In these people, particular attention must therefore be paid to maintaining renal function.

International cooperation makes research possible The study is the result of many years of cooperation between scientists from BiH and colleagues around the world, in particular from the epidemiology unit of the Medical Research Council (MRC) of the University of Cambridge. Many experts worked together to better understand and attribute the biological relevance and causative genes of the findings, including from the Helmholtz Center in Munich, Qatar and the pharmaceutical company Pfizer.

Already, Claudia Langenberg is leading a new initiative. “We need larger studies that better map the genetic diversity of different populations to understand the biological and clinical effect of genetic variations that differ between certain populations.” (ANI)

(This story has not been edited by the Devdiscourse team and is auto-generated from a syndicated feed.)

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