With the help of two young patients with a unique neurological disorder, an initial study by scientists at the National Institutes of Health suggests that a gene called PIEZO2 controls specific aspects of human touch and proprioception, a “sixth sense” describing awareness of one’s body in space. Mutations in the gene caused the two to have movement and balance problems and the loss of some forms of touch. Despite their difficulties, they both appeared to cope with these challenges by relying heavily on vision and other senses.
“Our study highlights the critical importance of PIEZO2 and the senses it controls in our daily lives,” said Carsten G. Bönnemann, M.D., senior investigator at the NIH’s National Institute of Neurological Disorders and Stroke (NINDS) and a co-leader of the study published in the New England Journal of Medicine. “The results establish that PIEZO2 is a touch and proprioception gene in humans. Understanding its role in these senses may provide clues to a variety of neurological disorders.”
Dr. Bönnemann’s team uses cutting edge genetic techniques to help diagnose children around the world who have disorders that are difficult to characterize. The two patients in this study are unrelated, one nine and the other 19 years old. They have difficulties walking; hip, finger and foot deformities; and abnormally curved spines diagnosed as progressive scoliosis.
Working with the laboratory of Alexander T. Chesler, Ph.D., investigator at NIH’s National Center for Complementary and Integrative Health (NCCIH), the researchers discovered that the patients have mutations in the PIEZO2 gene that appear to block the normal production or activity of Piezo2 proteins in their cells. Piezo2 is what scientists call a mechanosensitive protein because it generates electrical nerve signals in response to changes in cell shape, such as when skin cells and neurons of the hand are pressed against a table. Studies in mice suggest that Piezo2 is found in the neurons that control touch and proprioception.
“As someone who studies Piezo2 in mice, working with these patients was humbling,” said Dr. Chesler. “Our results suggest they are touch-blind. The patient’s version of Piezo2 may not work, so their neurons cannot detect touch or limb movements.”
Further examinations at the NIH Clinical Center suggested the young patients lack body awareness. Blindfolding them made walking extremely difficult, causing them to stagger and stumble from side to side while assistants prevented them from falling. When the researchers compared the two patients with unaffected volunteers, they found that blindfolding the young patients made it harder for them to reliably reach for an object in front of their faces than it was for the volunteers. Without looking, the patients could not guess the direction their joints were being moved as well as the control subjects could.
The patients were also less sensitive to certain forms of touch. They could not feel vibrations from a buzzing tuning fork as well as the control subjects could. Nor could they tell the difference between one or two small ends of a caliper pressed firmly against their palms. Brain scans of one patient showed no response when the palm of her hand was brushed.
Nevertheless, the patients could feel other forms of touch. Stroking or brushing hairy skin is normally perceived as pleasant. Although they both felt the brushing of hairy skin, one claimed it felt prickly instead of the pleasant sensation reported by unaffected volunteers. Brain scans showed different activity patterns in response to brushing between unaffected volunteers and the patient who felt prickliness.
Despite these differences, the patients’ nervous systems appeared to be developing normally. They were able to feel pain, itch, and temperature normally; the nerves in their limbs conducted electricity rapidly; and their brains and cognitive abilities were similar to the control subjects of their age.
“What’s remarkable about these patients is how much their nervous systems compensate for their lack of touch and body awareness,” said Dr. Bönnemann. “It suggests the nervous system may have several alternate pathways that we can tap into when designing new therapies.”
Previous studies found that mutations in PIEZO2 may have various effects on the Piezo2 protein that may result in genetic musculoskeletal disorders, including distal arthrogryposis type 5, Gordon Syndrome, and Marden-Walker Syndrome. Drs. Bönnemann and Chesler concluded that the scoliosis and joint problems of the patients in this study suggest that Piezo2 is either directly required for the normal growth and alignment of the skeletal system or that touch and proprioception indirectly guide skeletal development.
“Our study demonstrates that bench and bedside research are connected by a two-way street,” said Dr. Chesler. “Results from basic laboratory research guided our examination of the children. Now we can take that knowledge back to the lab and use it to design future experiments investigating the role of PIEZO2 in nervous system and musculoskeletal development.”
Next week I’ll give a presentation on the Researchers Night at Eötvös Loránd University, Hungary with the title: “Chemistry of light and the light of chemistry”.
During this presentation one of my favorite dyes will be also presented: Nile Red. However, just as usual, the 1000 USD/gram price was a bit over our budget, so I had to make it.
The raw product was contaminated with a few impurities, but a fast purification, by simple filtering the mixture through a short column helped a lot and ended up with a +95% pure product.
At first I concentrated the product from a dilute solution on the column as seen on the first pics. It’s interesting to see, that it has a different fluorescence in solution (faint orange fluorescent) and while it’s absorbed on the solid phase (pink, highly fluorescent).
After all the product was on the solid phase, I added another solvent and washed down the pure, HIGHLY FLUORESCENT product. Everything else, what was mainly products of side reactions, stuck at the top of the column as seen on the second pics and the gifs.
Also here is a video from the whole process in HD: https://youtu.be/W0Lk5jkd_B0
Scientists have developed a new drug that could be a safer alternative to morphine for medical use. The researchers found that engineered variants of endomorphin, a naturally occurring chemical in the body, are as strong as morphine when it comes to killing pain.
On top of that, the medication doesn’t produce any of the unwanted side effects that come with opium-based drugs – such as being extremely addictive. At this point, the findings only relate to tests in rats, but it’s a promising start to what could be a powerful and less problematic painkiller.
Opioid pain medications are commonly used to treat severe and chronic pain, but in addition to their habit-forming qualities, patients also build up a tolerance to them over time. Hand in hand with their addictiveness, this can makes higher doses – and overdoses in drug abuse situations – dangerous. Overdoses can cause motor impairment and potentially fatal respiratory depression, resulting in thousands of deaths in the US every year.
It’s a textbook moment centuries in the making: more than 200 years after scientists started investigating how water molecules conduct electricity, a team has finally witnessed it happening first-hand.
It’s no surprise that most naturally ocurring water conducts electricity incredibly well - that’s a fact most of us have been taught since primary school. But despite how fundamental the process is, no one had been able to figure out how it actually happens on the atomic level.
“This fundamental process in chemistry and biology has eluded a firm explanation,” said one of the team, Anne McCoy from the University of Washington. “And now we have the missing piece that gives us the bigger picture: how protons essentially ‘move’ through water.”
Continue Reading.
Stephanie Kwolek was born #OTD in 1923. She’s most famous for inventing the bulletproof polymer Kevlar: wp.me/p4aPLT-3dv
Most of the brain contains cells that no longer divide and renew. However, the dentate gyrus, nestled within the memory-forming centre of the brain (the hippocampus) is one of the few sites where new cells continue to form throughout life. As a person ages, there is an ever-increasing struggle for these new dentate gyrus neurons (coloured pink) to integrate with existing older neurons (green) because the latter already has well-established connections. This may be why learning and memorisation becomes more difficult as a person gets older. Scientists have now found that by temporarily reducing the number of dendritic spines – branches of neurons that form connections with other neurons – in the mature cells, the new cells have a better chance of functionally integrating. Indeed, in live mice, briefly eliminating dendritic spines boosted the number of integrated new neurons, which rejuvenated the hippocampus and improved the animals’ memory precision.
Written by Ruth Williams
Image courtesy of Kathleen McAvoy
Center for Regenerative Medicine, Massachusetts General Hospital, Boston, MA, USA
Copyright held by original authors
Research published in Neuron, September 2016
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WHAT??? Time to update those textbooks.
Stromatolites are round, multilayered mineral structures that range from the size of golf balls to weather balloons and represent the oldest evidence that there were living organisms on Earth 3.5 billion years ago.
Scientists who believed life began in the ocean thought these mineral formations had formed in shallow, salty seawater, just like living stromatolites in the World Heritage-listed area of Shark Bay, which is a two-day drive from the Pilbara.
But what Djokic discovered amid the strangling heat and blood-red rocks of the region was evidence that the stromatolites had not formed in salt water but instead in conditions more like the hot springs of Yellowstone.
The discovery pushed back the time for the emergence of microbial life on land by 580 million years and also bolstered a paradigm-shifting hypothesis laid out by UC Santa Cruz astrobiologists David Deamer and Bruce Damer: that life began, not in the sea, but on land.
Stromatolites.Credit: © Ints / Fotolia
Happy Halloween!
Guncotton in a pumpkin and the decomposition of hydrogen peroxide catalysed by potassium iodide, on the roof of the Ri.
IN THE MIX
Matti Koivisto, an undergraduate student working in the laboratory of Kari Haajanen at Turku University of Applied Sciences, designs solutions similar to this one to detect the bacteria Escherichia coli. He uses a dye called rhodamine 6G, which has a strong orange color when dissolved in ethanol. In solution, the dye separates into negatively and positively charged ions, the latter of which are largely responsible for the dye’s color. Negatively charged molecules on the outer membranes of E. coli attract the dye’s positive ions. This interaction causes the dye to change color to a pinkish hue, and the level of color change allows Koivisto to gauge how many of the bacteria are present.
Submitted by Matti Koivisto
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Penny Chisholm has had a 35-year love affair—with a microbe. For her, it’s been the perfect partner—elusive during courting, a source of intellectual fulfillment, and still full of mystery decades after their introduction during an ocean cruise.
To look at, the object of her passion is just a green mote, floating in vast numbers in the world’s oceans. But Chisholm has found hidden complexity within Prochlorococcus, a cyanobacterium that is the smallest, most abundant photosynthesizing cell in the ocean—responsible for 5% of global photosynthesis, by some estimates. Its many different versions, or ecotypes, thrive from the sunlit sea surface to a depth of 200 meters, where light is minimal. Collectively the “species” boasts an estimated 80,000 genes—four times what humans have, and plenty to deal with whatever the world’s oceans throw at it. “It’s a beautiful little life machine and like a superorganism,” Chisholm says. “It’s got a story to tell us.”
A pharmacist and a little science sideblog. "Knowledge belongs to humanity, and is the torch which illuminates the world." - Louis Pasteur
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