The secrets of RASopathies
What secrets might one single biological pathway be harboring?
The RAS family of proteins have a unique role. They act as a sort of relay, an on/off switch, if you will, in the cell. As RAS is activated by incoming signals, it turns on other proteins and genes involved in cell development and cell differentiation. Given this rather grand position in the cell, you can imagine that problems with RAS can lead to a wide variety of issues. To date, dysregulation in the RAS pathway have been linked to debilitating disorders like autism, cancer, Noonan syndrome, Costello syndrome and Neurofibromatosis.
"RASopathies" are a family of nine genetically related development syndromes and disorders. They have some overlapping symptoms as well as mutations of genes within the RAS signaling pathway. But have you heard of RASopathies? Many haven't--despite the fact that they are the largest group of related neurodevelopmental syndromes in the world. Some clinicians have suggested that RASopathies may be even more common than Down syndrome.
One little protein. One single pathway. A lot of interesting tales to tell.
Researchers across the globe are trying to understand RAS (and its associated gene)--and how and why it can hold such power over development. They are looking for successful treatments to help children who have disorders like Noonan and Costello syndromes. And they hope that the secrets in this one signaling pathway may offer insights into the development of other diseases like cancer and heart disease. But without more outreach (and, of course, funding), they aren't going to get very far.
Given the importance of RAS signaling, why aren't we hearing more about it? Maybe we should be.
Certainly, the parents of children with RASopathies believe the larger community should be. They are working hard on outreach, maintaining large online support groups for fellow parents as well as research and information websites. But they can't do it alone.
One gene. One protein. One pathway. Many, many secrets. It's time to get a better handle on RASopathies.
Photo credit: wavebreakmedia/Shutterstock.com
Malcolm Gladwell teaches "Get over yourself and get to work" for Big Think Edge.
- Learn to recognize failure and know the big difference between panicking and choking.
- At Big Think Edge, Malcolm Gladwell teaches how to check your inner critic and get clear on what failure is.
- Subscribe to Big Think Edge before we launch on March 30 to get 20% off monthly and annual memberships.
It's one of the most consistent patterns in the unviverse. What causes it?
- Spinning discs are everywhere – just look at our solar system, the rings of Saturn, and all the spiral galaxies in the universe.
- Spinning discs are the result of two things: The force of gravity and a phenomenon in physics called the conservation of angular momentum.
- Gravity brings matter together; the closer the matter gets, the more it accelerates – much like an ice skater who spins faster and faster the closer their arms get to their body. Then, this spinning cloud collapses due to up and down and diagonal collisions that cancel each other out until the only motion they have in common is the spin – and voila: A flat disc.
It turns out, that tattoo ink can travel throughout your body and settle in lymph nodes.
In the slightly macabre experiment to find out where tattoo ink travels to in the body, French and German researchers recently used synchrotron X-ray fluorescence in four "inked" human cadavers — as well as one without. The results of their 2017 study? Some of the tattoo ink apparently settled in lymph nodes.
Image from the study.
As the authors explain in the study — they hail from Ludwig Maximilian University of Munich, the European Synchrotron Radiation Facility, and the German Federal Institute for Risk Assessment — it would have been unethical to test this on live animals since those creatures would not be able to give permission to be tattooed.
Because of the prevalence of tattoos these days, the researchers wanted to find out if the ink could be harmful in some way.
"The increasing prevalence of tattoos provoked safety concerns with respect to particle distribution and effects inside the human body," they write.
It works like this: Since lymph nodes filter lymph, which is the fluid that carries white blood cells throughout the body in an effort to fight infections that are encountered, that is where some of the ink particles collect.
Image by authors of the study.
Titanium dioxide appears to be the thing that travels. It's a white tattoo ink pigment that's mixed with other colors all the time to control shades.
The study's authors will keep working on this in the meantime.
“In future experiments we will also look into the pigment and heavy metal burden of other, more distant internal organs and tissues in order to track any possible bio-distribution of tattoo ink ingredients throughout the body. The outcome of these investigations not only will be helpful in the assessment of the health risks associated with tattooing but also in the judgment of other exposures such as, e.g., the entrance of TiO2 nanoparticles present in cosmetics at the site of damaged skin."
Do you have a magnetic compass in your head?
SMARTER FASTER trademarks owned by The Big Think, Inc. All rights reserved.