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
Newly designed molecule binds nitrogen
23.02.2018 | Julius-Maximilians-Universität Würzburg
Atomic Design by Water
23.02.2018 | Max-Planck-Institut für Eisenforschung GmbH
A newly developed laser technology has enabled physicists in the Laboratory for Attosecond Physics (jointly run by LMU Munich and the Max Planck Institute of Quantum Optics) to generate attosecond bursts of high-energy photons of unprecedented intensity. This has made it possible to observe the interaction of multiple photons in a single such pulse with electrons in the inner orbital shell of an atom.
In order to observe the ultrafast electron motion in the inner shells of atoms with short light pulses, the pulses must not only be ultrashort, but very...
A group of researchers led by Andrea Cavalleri at the Max Planck Institute for Structure and Dynamics of Matter (MPSD) in Hamburg has demonstrated a new method enabling precise measurements of the interatomic forces that hold crystalline solids together. The paper Probing the Interatomic Potential of Solids by Strong-Field Nonlinear Phononics, published online in Nature, explains how a terahertz-frequency laser pulse can drive very large deformations of the crystal.
By measuring the highly unusual atomic trajectories under extreme electromagnetic transients, the MPSD group could reconstruct how rigid the atomic bonds are...
Quantum computers may one day solve algorithmic problems which even the biggest supercomputers today can’t manage. But how do you test a quantum computer to...
For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.
In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...
Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale
Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...
15.02.2018 | Event News
13.02.2018 | Event News
12.02.2018 | Event News
23.02.2018 | Physics and Astronomy
23.02.2018 | Health and Medicine
23.02.2018 | Physics and Astronomy