Scientists from Tohoku University's Tohoku Medical Megabank Organization (ToMMo) have published research about genetic diversity and metabolome in Scientific Reports.
"We discovered genetic variants affecting enzymatic activities in healthy people," said Dr. Seizo Koshiba. "Our study shows that genetic polymorphisms, structural location of mutation and effect for phenotype correlate with each other in the human population. This implies that metabolic individuality and susceptibility for diseases are possibly resulted from the moderate variants and much more deleterious, but rare, variants."
In their analyses, researchers found the following results:
- The relationship between structural variants of enzymes and metabolic phenotypes in the human population was surveyed in the association study of metabolite concentrations with whole genome sequence analysis data.
- Five associations between metabolites and gene variants were identified. Four of the gene variants are known to be related to metabolic diseases. The residues substituted by these variants are located in peripheral regions of the catalytic sites or related regulatory domains of enzymes.
- Two people have larger changes of metabolite levels of phenylalanine. They had rare gene variants, which substitute residues located near the catalytic site.
- These data demonstrate that variant frequency, structural location and effect for phenotype correlate with each other in the human population.
ToMMo will study environmental and genetic influence on individual differences of proteomics and metabolomics. ToMMo aims to discover useful biomarkers for disease prevention and early diagnosis through the identification and quantification of metabolites in blood. Such studies can contribute to the advancement of personalized prevention and treatment of diseases, as well as the identification of disease mechanisms and development of new therapeutics.
These findings are based on the analysis of blood samples from 512 healthy people who participated in the Tohoku Medical Megabank Project Community-Based Cohort Study and the Birth and Three-Generation Cohort Study.
Some of the data can be found on ToMMo's website: Japanese Multi Omics Reference Panel (jMorp) (please see the link below).
Tohoku Medical Megabank Organization, Tohoku University
Authors: Seizo Koshiba, Ikuko Motoike, Kaname Kojima, Takanori Hasegawa, Matsuyuki Shirota, Tomo Saito, Daisuke Saigusa, Inaho Danjoh, Fumiki Katsuoka, Soichi Ogishima, Yosuke Kawai, Yumi Yamaguchi-Kabata, Miyuki Sakurai, Sachiko Hirano, Junichi Nakata, Hozumi Motohashi, Atsushi Hozawa, Shinichi Kuriyama, Naoko Minegishi, Masao Nagasaki, Takako Takai-Igarashi, Nobuo Fuse, Hideyasu Kiyomoto, Junichi Sugawara, Yoichi Suzuki, Shigeo Kure, Nobuo Yaegashi, Osamu Tanabe, Kengo Kinoshita, Jun Yasuda and Masayuki Yamamoto
Title: The structural origin of metabolic quantitative diversity
Journal: Scientific Reports
Ngaroma Riley | Research SEA
New way to look at cell membranes could change the way we study disease
19.11.2018 | University of Oxford
Controlling organ growth with light
19.11.2018 | European Molecular Biology Laboratory
Researchers at the University of New Hampshire have captured a difficult-to-view singular event involving "magnetic reconnection"--the process by which sparse particles and energy around Earth collide producing a quick but mighty explosion--in the Earth's magnetotail, the magnetic environment that trails behind the planet.
Magnetic reconnection has remained a bit of a mystery to scientists. They know it exists and have documented the effects that the energy explosions can...
Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.
Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...
Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.
In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...
On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.
When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure
Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...
19.11.2018 | Event News
09.11.2018 | Event News
06.11.2018 | Event News
19.11.2018 | Life Sciences
19.11.2018 | Life Sciences
19.11.2018 | Event News