(Press-News.org)
Osaka, Japan – Achondroplasia, also known as short-limb dwarfism, is associated with neurological symptoms and complications due to narrowing of the skeletal structures surrounding the spinal cord. Despite achondroplasia being the most common cause of dwarfism, the mechanisms underlying the condition remain to be analyzed, meaning that current treatment options are insufficient.
Now, a team at The University of Osaka has created a mouse model of achondroplasia that has advanced understanding of both healthy and abnormal bone growth, highlighting potential therapeutic targets. The findings of their research are due to be published in Nature Communications.
By tracking cell proliferation, the team identified a signaling molecule called FGFR3 and a pathway called CREB as key in regulating bone growth. Growing bones possess a ‘growth plate’ that consists of three distinct layers of chondrocytes, or cartilage cells, known as the resting, proliferating, and hypertrophic zones. Cells move between these zones, dividing into the proliferating zone and then increasing in size in the hypertrophic zone, resulting in healthy bone growth.
The mouse model revealed that cells carrying the genetic mutation associated with achondroplasia accumulate in the resting zone and show abnormal behaviors, which included abnormal patterns of division, migration into the proliferating zone, and gene expression.
“A major challenge in studying the process of chondrocyte differentiation is the difficulty in identifying and analyzing cells at each stage,” explains senior author, Noriyuki Tsumaki. “Here, we overcame this problem using single-cell RNA sequencing. This allows the genes active in a single cell to be identified, and thus each stage of differentiation to be characterized.”
This analysis compared chondrocytes with and without the genetic mutation causing achondroplasia and showed that the major differences were in how cells behaved in the resting zone. This is particularly significant, as previous studies and treatments for this condition have focused exclusively on cells in the proliferating and hypertrophic zones.
“The increased FGFR3 signaling observed in achondroplastic chondrocytes affects signaling through the CREB pathway,” notes lead author, Nanao Horike. “Inhibition of this pathway using a drug called CREB inhibitor 666-15 restored the typical signaling behavior of cells in the growth plate and increased the length of the bone. This tells us that drugs targeting this pathway could have a significant therapeutic effect in achondroplasia.”
This study therefore represents a significant advance in our understanding of how chondrocytes differentiate as bones grow. Moreover, additional discoveries about FGFR3 expression and the CREB pathway provides novel therapeutic targets that, with future research, could prove significant in drug development to minimize the debilitating conditions associated with achondroplasia.
###
The article, “Excess FGFR3 signaling in achondroplasia disrupts turnover of resting zone chondrocytes via CREB signaling,” will be published in Nature Communications at DOI: https://doi.org/10.1038/s41467-026-69507-9
About The University of Osaka
The University of Osaka was founded in 1931 as one of the seven imperial universities of Japan and is now one of Japan's leading comprehensive universities with a broad disciplinary spectrum. This strength is coupled with a singular drive for innovation that extends throughout the scientific process, from fundamental research to the creation of applied technology with positive economic impacts. Its commitment to innovation has been recognized in Japan and around the world. Now, The University of Osaka is leveraging its role as a Designated National University Corporation selected by the Ministry of Education, Culture, Sports, Science and Technology to contribute to innovation for human welfare, sustainable development of society, and social transformation.
Website: https://resou.osaka-u.ac.jp/en
END
Water droplets have a unique ability: They can leap from a surface on their own.
This can happen for a variety of reasons, such as when a surface repels water or when heat is involved, such as a water or oil droplet skittering across a hot pan.
It also happens at a very small scale. Up to this point, researchers have observed droplets up to 3 millimeters in diameter exhibiting this behavior. When droplets are larger than that, gravity prevents it from jumping.
A new study published in Nature identifies a previously unreported way to get a puddle of water up to a centimeter wide to jump into the air, something ...
An international team of scientists has shed light on the development of the malaria parasite and have identified a unique protein essential for its survival and transmission, which offers a promising new target for antimalaria drugs.
The discovery centres on a molecule named Aurora-related kinase 1 (ARK1). In a new study published in Nature Communications, researchers from the University of Nottingham, National Institute of Immunology (NII), India, University of Groningen, the Netherlands, the Francis Crick Institute, and international collaborators, have revealed that ARK1 acts as a ‘traffic controller’ during the parasite's unusual cell division and growth process.
Malaria ...
A new study spanning eleven years of data has revealed a clear link between wildfire smoke pollution and an increase in violent assaults in Seattle. These findings represent the first direct causal evidence that short-term exposure to wildfire-driven air pollution can increase interpersonal violence in an urban environment.
As wildfires intensify around the world due to climate change, Lion Kircheis, the author of the study warns that air-quality deterioration may be driving ...
An international team of scientists led by the University of Bath has developed a new catalyst – a substance that speeds up chemical reactions – that uses sunlight to break down so-called ‘forever chemicals’ prevalent in the environment and known to accumulate in the human body with unknown long-term health effects.
They hope this technology could in the future be scaled up and used to detect or remove these persistent chemicals from the environment.
Published today in ...
Green hydrogen is considered an indispensable component of the global energy transition, but its production still faces massive economic and environmental hurdles. For example, the promising PEM (proton exchange membrane) electrolysis process, which is particularly suitable for producing green hydrogen when the supply of electricity from wind power and photovoltaic systems fluctuates, is still very expensive compared to production using fossil fuels. Sustainability also needs to be scrutinised here. This is because it relies on environmentally hazardous ...
The construction sector is currently responsible for 37 percent of global CO2 emissions and therefore holds enormous potential in the green transition. It requires new knowledge to change the way we build and maintain the existing building stock if resource consumption and climate footprint are to be reduced. This is the background for a new research program called Civil Engineering and the Green Transition in the Built Environment (CEBE), which will research new solutions to promote sustainability in the built environment.
As ...
Small household solar power systems have been gaining traction—and investment—as means to provide affordable and sustainable energy to those living without access to electricity.
But new research led by the University of Michigan shows that simply having access to solar technology does not mean people will adopt it and realize access to meaningful energy services. In a series of three peer-reviewed articles, researchers led by Pamela Jagger published results from a two-year study that involved surveying more than 1,000 households in Malawi, an African nation with one of the world's lowest energy access rates.
The study, supported by the U.S. National Science Foundation, ...
Per- and polyfluoroalkyl substances (PFAS) – ‘forever chemicals’ in common parlance – are a class of thousands of synthetic chemicals often used in non-stick coatings, water-resistant fabrics, fire-fighting foams, food packages, cleaning products, and plastics. They contain exceptionally strong molecular bonds, which makes them hard to break down. PFAS pollution is increasingly detectable in water, soil, and tissues of organisms, and some have been implicated in human cancers, obesity, infertility, and hormonal imbalances.
A ...
Synovial sarcoma is an aggressive malignant tumor that primarily affects the limbs of teenagers and young adults. While it can be cured if completely removed by surgery, recurrence or metastasis, the spread of cancer to organs such as the lungs, can make treatment difficult and life-threatening. This may also render radiation and chemotherapy ineffective. Therefore, current treatments alone are insufficient, and new treatments are needed.
Fortunately, cancer research has changed focus and now theorizes new solutions in energy metabolism, asking “What nutrients do ...
February 26, 2026 – While heart disease in younger populations is rising globally, there have been virtually no studies examining parenting while navigating an early-onset cardiovascular condition. To address this gap, new focus group research has pinpointed the main concerns of parents with an early-onset cardiovascular condition facing the complex task of managing their own recovery while raising younger children. The study in the Canadian Journal of Cardiology, published by Elsevier, highlights the need for developmentally appropriate communication ...
