Osteoporosis is the reduction in bone strength that occurs during aging, which increases the chance of elderly people experiencing breaks. A genome-wide association study in the Japanese population has revealed that a genomic variant within a newly identified gene, which the discoverers have named FONG, enhances susceptibility to osteoporosis1.
Led by Shiro Ikegawa of the RIKEN Center for Genomic Medicine, the researchers began by examining the entire genomes of 190 Japanese individuals with osteoporosis and 1,557 controls. Based on the results of this initial study, they focused on 3,000 single nucleotide changes in the genomes of an additional 526 individuals with osteoporosis and 1,537 controls. Additional analyses in two further population samples led to the identification of the genomic variant, found on chromosome 2; however, there was no known gene around the variant. Instead, the researchers found only representations of portions of expressed genes in the form of several expressed sequence tags.
By analyzing messenger RNAs (mRNAs) expressed from the genomic region around the variant, Ikegawa and colleagues discovered that the genomic variant is within FONG, which stands ‘formiminotransferase N-terminal sub-domain containing gene’. This previously unknown gene is expressed in various human tissues, including bone. Because the genomic variant resides outside of the FONG protein-coding region, Ikegawa and colleagues hypothesized that the variant may somehow affect the expression levels of the FONG gene.
One domain of the FONG gene, the formiminotransferase N-terminal sub-domain, is common in many different species, which indicates that it could have a very important function for maintaining life. “This domain appears to be an enzyme that is responsible for converting the amino acid histidine to the amino acid glutamic acid,” says Ikuyo Inaba (nee Kou), a researcher in Ikegawa’s laboratory and the first author of the study.
Glutamic acid and its breakdown products are known to play an important role in maintaining the bones, so any problems with the creation of these compounds may lead to osteoporosis. “The glutamic acid signaling pathway may also affect osteoporosis risk in non-Japanese individuals,” she explains. “So, the association of this variant of the FONG gene with disease in other populations is worth investigating in the future.”
According to Inaba, further work is needed to determine how the osteoporosis-linked variant of the FONG gene can affect its expression. The identification of this variant in FONG—and its link to osteoporosis—can aid in the development of new therapies for this disease.
The corresponding author for this highlight is based at the Laboratory for Bone and Joint Diseases, RIKEN Center for Genomic Medicine
Study suggests possible new target for treating and preventing Alzheimer's
02.12.2016 | Oregon Health & Science University
The first analysis of Ewing's sarcoma methyloma opens doors to new treatments
01.12.2016 | IDIBELL-Bellvitge Biomedical Research Institute
A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.
Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...
In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.
“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...
The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.
The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...
Broadband rotational spectroscopy unravels structural reshaping of isolated molecules in the gas phase to accommodate water
In two recent publications in the Journal of Chemical Physics and in the Journal of Physical Chemistry Letters, researchers around Melanie Schnell from the Max...
The efficiency of power electronic systems is not solely dependent on electrical efficiency but also on weight, for example, in mobile systems. When the weight of relevant components and devices in airplanes, for instance, is reduced, fuel savings can be achieved and correspondingly greenhouse gas emissions decreased. New materials and components based on gallium nitride (GaN) can help to reduce weight and increase the efficiency. With these new materials, power electronic switches can be operated at higher switching frequency, resulting in higher power density and lower material costs.
Researchers at the Fraunhofer Institute for Solar Energy Systems ISE together with partners have investigated how these materials can be used to make power...
16.11.2016 | Event News
01.11.2016 | Event News
14.10.2016 | Event News
02.12.2016 | Medical Engineering
02.12.2016 | Agricultural and Forestry Science
02.12.2016 | Physics and Astronomy