Study: Neanderthal-Inherited Genetic Mutations Decrease Major Muscle Enzyme Activity

An AMPD1 variant from Neanderthals reduces enzyme activity by 25% in lab-produced proteins and up to 80% in muscles of genetically modified mice. This variant is present in all sequenced Neanderthals but absent in other species. It entered the modern human gene pool through interbreeding approximately 50,000 years ago, leading to its presence in up to 8% of today’s Europeans.

Maccak et al. Research indicates that genetic variants inherited from Neanderthals impair essential enzyme functions in muscle performance. Image credit: Holger Neumann/Neanderthal Museum.

The enzyme AMPD1 is crucial for muscle energy production and overall muscle function.

A decrease in its activity due to genetic mutations is the leading cause of metabolic myopathy in Europeans, with a prevalence of 9-14%.

In a recent study led by Dr. Dominik Macak from the Max Planck Institute for Evolutionary Anthropology, researchers compared ancient Neanderthal DNA with modern human genomes.

They discovered that all Neanderthals have specific AMPD1 variants absent in other species.

Enzymes produced in the lab with this variant exhibited a 25% decrease in AMPD1 activity.

In genetically modified mice, this reduction in muscle tissue activity reached 80%, negatively affecting enzyme performance.

Moreover, the study shows that modern humans acquired this variant from Neanderthals who lived in Europe and Western Asia before interacting with modern humans around 50,000 years ago.

Currently, approximately 1-2% of non-African individuals carry Neanderthal DNA.

The Neanderthal AMPD1 variant is found in 2-8% of Europeans today, indicating general acceptance in the gene pool.

“Interestingly, most individuals with these variants do not face serious health concerns,” noted Dr. McCuck.

“However, enzymes seem to significantly influence athletic performance.”

Analysis of over 1,000 elite athletes across diverse sports showed that those with non-functional AMPD1 are less likely to reach the highest athletic levels.

“Having defective AMPD1 enzymes decreases the chances of achieving elite athletic ability by half,” Dr. McCuck said.

While AMPD1 activity appears to have moderate significance in contemporary Western societies, it becomes crucial under extreme physical conditions, such as those faced by athletes.

Researchers highlight the need for studying genetic variation within physiological and evolutionary contexts to grasp biological implications.

“Cultural and technological advancements in both modern humans and Neanderthals may have lessened the necessity for extreme muscle performance,” explains Dr. Hugo Zeberg, a researcher at the Max Planck Institute for Evolutionary Anthropology and Karolinska Institute.

“Understanding how current gene variants influence human physiology can yield valuable insights into health, performance, and genetic diversity.”

Survey results were published in the journal Natural Communication on July 10, 2025.

____

D. McCuck et al. 2025. Muscle AMPD1 exhibited reduced deaminase activity in Neanderthals compared to modern humans. Nat Commun 16, 6371; doi:10.1038/s41467-025-61605-4

Source: www.sci.news

The Mighty Hidden Muscle Dinosaurs that Roamed Cretaceous European Islands

New genus and species of Titanosaurus have been identified from fossilized sites found in the Hayeg Basin, Transylvania, western Romania.

The artist's impression of the lithotrothian dinosaur herd (right). Image credit: Abelov/CC by 3.0.

The newly identified species was alive Haeg IslandA large subtropical land located in the Thetis Sea about 70 million years ago (Cretaceous).

dubbing uriash kadicithe animals belong to Lithostrotiaa group of titanosaurus dinosaurs containing many armored species.

“The sauropod dinosaurs on Titanosaurus include the largest animal walking on land, with a huge species of over 60 tons,” says Paleoliths at the Museum of Fool Naturkunde, a Livenitz Installation Fool Evolution. said Dr. Veronica Dees Diaz, a scholar. colleague.

“By the late Cretaceous, Titanosaurus had achieved almost global distribution.

“Despite the rich and global fossil record, the evolutionary relationships of Titanosaurus are less known, limiting our understanding with this diverse megaharbibaud (the only group of sauropods is , the only group to survive the latest Cretaceous period).

“European giants in particular have been largely ignored in phylogenetic analysis,” they said.

“This neglect comes mainly from the historical advantages of the Gondwana species and the rarity and imperfection of Laurasian artefacts, particularly from Europe.”

“However, this began to change with the combination of reassessment of existing species and specimens and the discovery of new sites with distinct partial skeletons.”

“As a result, the fossil records of the most recent Cretaceous European sauropods are increasingly important for biogeographical scenarios, and rich evolutionary history is increasingly recognized for increasing incorporation into phylogenetic analysis. It is beginning to make clear.

Holotype of uriash kadici It was discovered in the formation of density in the Hayeg Basin, Romania.

Dinosaurs are estimated to weigh between 5 to 8 tons and their body length is close to 12 m.

uriash kadici It is the largest titanosaurus species known from the Ha eg basin, exceeding the maximum reached by most other late Cretaceous European Titanosaurus. Abitosaurus (Estimated at 14 tons and 17.5 m long)”, the paleontologist said.

The existence of large giants such as ” uriash kadici It is worth noting and requires explanation as it appears to contradict, or at least weaken, the supposed behavior of “island domination” over these faunas. ”

uriash kadici It coexists with three other Titanosaurus species. Majarosaurus Dax, PaluditiTan nalatzensis and Petrustitan Hungarian.

The diversity was probably even higher, as evidenced by the substantial amounts of fossils involved.

“Our phylogenetic analysis shows that these Transylvanian titanosaurus exhibit particularly close relationships with Gondwana species. Majarosaurus Retrieved as a member or relative of the Saltasauria family. Palditian Affinity with lognkosauria and the Spanish Titanosaurus that were almost the same era Lohuecotitan; Petrustitan It is most closely related to early branched eutitanosaurian species in South America. and Uriash We share a unique feature with Gondwanan Titanosaurs,” they said.

“These analyses also reinforce the paleobiogeographic hypothesis that the latest Cretaceous European giants were members of the Gondwana lineage that invaded the old regions during the ages of Valemia and Albia.”

“Since the first discovery, Majarosaurus Dax The island's dwarfs have been identified as star sauropods, proposed as explanations for the small size of this species and other dinosaurs on Hayeg Island. ”

“on the other hand Palditian and Petrustitan It is also a small body sauropod. Uriash It is several orders of magnitude heavier and represents one of the largest Titanosaurus species found in the Late Cretaceous period of Europe. ”

“We have shown that the existence of this body size disparity is ecologically excluded from body size reduction due to competition with small-body titanosaurus, or as evidence that some lineages and small We interpret it as evidence that it occurred early in stratigraphically among the giants of the body. Hayeg Island has descendants of existing dwarf ancestors.”

“In contrast to some previous studies, signs of titanosaurus leaving the body size, including swapping the War star species for larger-sized species during the top Cretaceous period of the Transylvanian region. I can't see it.”

Discovery of uriash kadici Reported in a paper It was released this month Journal of Systematic Palaeontology.

____

Veronica Dies Dias et al. 2025. The Romanian sauropod dinosaur revision reveals high titanosaurus diversity and body size disparities on Hayeg Island of Titanosaurus, affecting the biogeography of Titanosaurus. Journal of Systematic Palaeontology 23(1): 2441516; doi: 10.1080/14772019.2024.2441516

Source: www.sci.news

The muscle scientist doubted the activation of the ankle muscles during intense listening.

If you can move your ears in small pieces, you can use the muscles of the anoperia. These muscles helped to change the shape of the anoperia or the ears of the ears, and made a sound on the eardrum. Million years ago, our ancestors stopped using them, so the human auricasis is only a trace. However, scientists at Saarland University have now discovered that the anoperous muscle is activated while trying to hear the competition.

The position of the electrode used to cover the excellent anoperous muscle. Image credit: Schroeer et al。 , Doi: 10.3389/fnins.2024.1462507.

“There are three large muscles that connect the auric to the skull to the scalp, which is important for shaking the ears,” said Andreas Schreaer, a researcher at the University of Saland.

“These muscles, especially excellent anoperous muscles, increase their activities during the effort in listening tasks.”

“This suggests that these muscles are potentially involved as part of the attention mechanism, especially in the challenging hearing environment, as well as reflection.

It is difficult to test how difficult someone is without self -reported measures.

However, an electrocardiogram that measures muscle electrical activities helps to identify the activity of the auricasis related to listening well.

Similar studies have already shown that the maximum muscles, the rear and upper nureal muscles react during attentive listening.

Because they are raising their ears and pulling them behind, they are thought to have been involved in moving the nurturna to capture the sound.

“It is difficult to convey the exact reason why our ancestors lost this ability about 25 million years ago,” said Dr. Schleae.

“One of the possible explanations is that the visual system and vocal system are much more skilled, so the evolutionary pressure of moving the ears has stopped.”

In order to test whether these muscles are more active in the more difficult listening tasks, researchers have recruited 20 people without hearing impairment.

They applied electrodes to the participant's auricasis, then played an audio book, and diverted the podcast from the previous or back speakers.

Each participant took 12 5 minutes tests, covering three different levels of difficulty.

In simple modes, podcasts were quieter than audiobooks, and speakers were in contrast to audiobooks.

In order to create two more difficult modes, scientists have added a podcast that sounds like an audiobook and enlarged the distractor.

However, scientists were paying attention to being able to achieve even the most difficult state. If the participants give up, no physiological efforts are registered.

Later, they evaluated the level of effort to the participants and asked to estimate the frequency of losing the audiobook thread in each trial. In addition, we quoted participants about audiobook content.

The authors have discovered that the two auricasis reacts different to different conditions.

The lodgal muscles responded to changes in the direction, but the anoperic muscle responded to the difficulty of the task.

Participants' self -reporting efforts and the frequency of losing the audiobook truck rose in accordance with tasks, and the accuracy of answers to questions about audiobooks remarkably reduced between media and difficult modes. I did.

This correlated with the level of activity of the excellent anoperia. They were more active in medium mode than Easy mode, but were very active in difficult modes.

This suggests that the activity of the muscles can help people hear it, but it suggests that excellent anoperous muscle activity can provide an objective listening effort.

“The movement of the ears that can be generated by the signal we have recorded is very small, so there is probably no knowledge that can be perceived,” said Surea.

“However, the anchle itself contributes to the ability to localize the sound, so our Auriculomotor system probably tried the best attempts after spending traces for 25 million years. I do not.

study Published in the journal Neurology Frontier

______

Andreas Schlowaa et al。 2025. A muscle electrocardiogram correlation of effort in the tracing hearing movement system. front. Neural muscle 18; Doi: 10.3389/fnins.2024.1462507

Source: www.sci.news

Study finds new weight loss drug decreases appetite without compromising muscle mass

Researchers have identified a new drug similar to Ozempic that aids in weight loss without causing muscle loss. This drug, known as NK2R, works by suppressing appetite and boosting calorie burning. According to scientists, it has been successful in promoting weight loss while avoiding negative side effects such as nausea. The team of 47 researchers believe that NK2R could be a valuable option for individuals who have not seen results with other weight loss treatments.

Associate Professor Zach Gerhart-Hines, a metabolic researcher at the University of Copenhagen and co-author of the study, noted that their drug, unlike Ozempic, did not trigger nausea and also resulted in muscle relief rather than muscle loss. The drug targets specific neural circuits in the brain and affects blood sugar, weight, and cholesterol levels.

While Ozempic mimics the hormone GLP-1 to reduce hunger, NK2R works differently by targeting a molecule naturally present in the body’s cells called NK2R. When tested on overweight mice, the drug led to weight loss and decreased food intake.

However, some health experts are cautious about the effects of this treatment on humans, as it is currently based on animal studies. Dr. Adam Collins, an associate professor of nutrition at the University of Surrey, expressed skepticism about the research’s applicability to humans.

Clinical trials of NK2R in humans are scheduled to begin within the next two years.

About our experts:

Dr. Zach Gerhart-Hines is an associate professor at the University of Copenhagen, Denmark, focusing on diet, circadian clocks, and metabolism.

Dr. Adam Collins is an Associate Professor at the University of Surrey with expertise in weight loss, metabolism, and nutrition.

read more:

Source: www.sciencefocus.com

Food colorings can temporarily make skin and muscle see-through in living animals

The researchers Stanford University Aqueous solutions of tartrazine, a common food coloring approved by the U.S. Food and Drug Administration, have been shown to have the effect of reversibly transparentizing the skin, muscle, and connective tissue of live rodents.

Diagram of skin tissue cleared by saturating it with FD&C Yellow 5, including the path of photons reflecting off unstained tissue. Image courtesy of Keyi 'Onyx' Li / National Science Foundation.

“We combined a yellow dye, a molecule that absorbs most light, especially blue and ultraviolet light, with skin, a scattering medium; these two individually block most light from passing through,” said study lead author Dr. Zhihao Ou, who conducted the research with colleagues during his postdoctoral research at Stanford University before joining the University of Texas at Dallas in August 2024.

“But when we combined them, we were able to achieve skin transparency in mice.”

To master this new technique, Dr. Ou and his colleagues developed a way to predict how light would interact with stained biological tissue.

These predictions required a deep understanding not only of light scattering, but also of the process of refraction, how light changes speed and bends as it passes from one material to another.

Scattering is why we can't see through the body: fats, fluids within cells, proteins, and other substances all have different refractive indices, properties that determine how much incoming light waves bend.

In most tissues, these materials are so densely packed that differences in refractive index cause light to scatter as it passes through them, resulting in what our eyes perceive as opaque, colored biological material.

The researchers realized that if they wanted to make biological materials transparent, they had to find a way to match the different refractive indices so that light could pass through unimpeded.

Drawing on fundamental insights from optics, the researchers realized that the dyes that are most effective at absorbing light are also highly effective at directing light evenly through a wide range of refractive indices.

One dye that scientists predicted would be particularly effective was Tartrazinecommonly known as FD&C Yellow 5, is a food coloring.

As it turns out, they were right: when dissolved in water and absorbed into tissue, the tartrazine molecule becomes perfectly structured to match the refractive index, preventing light scattering and resulting in transparency.

The authors first tested their predictions on thin slices of chicken breast.

As the concentration of tartrazine increased, the refractive index of the fluid inside the muscle cells increased, matching the refractive index of muscle proteins, causing the sections to become transparent.

Next, the researchers gently applied the temporary tartrazine solution to the mice.

First, the researchers applied a solution to the scalp, making the skin transparent to reveal the blood vessels crisscrossing the brain.

The researchers then applied the solution to the abdomen, where it disappeared within minutes and demonstrated intestinal contractions and movement due to heartbeat and breathing.

This technique allows for the resolution of micron-scale features and improved microscopy.

Once the dye was washed off, the tissue quickly returned to its normal opacity.

Tartrazine appears to have no long-term effects and excess is excreted within 48 hours.

“It's important that the dye is biocompatible and safe for living organisms,” Dr. Ou said.

“Plus, it's very cheap and efficient. You don't need that much of it to work.”

The team has yet to test the process on humans, whose skin is about 10 times thicker than that of mice.

“At this point, it's unclear how much dye or the delivery method is needed to penetrate the entire skin,” Dr. Ou said.

“In human medicine, we now have ultrasound that can see much deeper into the body.”

“Many medical diagnostic platforms are prohibitively expensive and inaccessible to a wide range of users, but this shouldn't be the case for a platform based on our technology.”

of study Published in this week's journal Science.

_____

Wu Zhihao others2024. Achieving optical transparency in living animals using absorbing molecules. Science 385 (6713); doi: 10.1126/science.adm6869

This article is an edited version of an original release from the National Science Foundation and the University of Texas at Dallas.

Source: www.sci.news

Traveling through space accelerates muscle aging greatly

The muscle cells briefly stayed with astronauts on the International Space Station

Shutterstock / Artsiom P

After a week in the microgravity of space, muscle cells age and their gene activity becomes similar to that of cells that have aged for years on Earth, a finding that may explain why muscle function is impaired during space travel.

We know that astronauts are at risk of losing bone density and muscle mass due to the extremely low gravity of space. Gun Fan Researchers from Stanford University in California and their colleagues analyzed the effects of microgravity on the genetics of muscle cells.

Source: www.newscientist.com

Using sleeping birds’ vocal muscle activity to create artificial songs

During sleep, we can sporadically find patterns of neural activity in areas of the bird's brain that are activated during song production. Recently, it was found that patterns of activity during these silent plays can be detected in the vocal muscles of sleeping birds. In a new study, researchers from the University of Buenos Aires and CONICET employed a dynamic systems model for song production in suborder birds. Tyrani This is to convert the vocal muscle activity during sleep into a synthetic song.

Great Kiskadee (Pitangus sulfuratus) July 2011, Beeville, Texas, USA. Image credit: Tess Thornton / CC BY-SA 3.0 Deed.

“Dreams are one of the most intimate and elusive parts of our existence,” said Dr. Gabriel Mindlin, senior author of the study.

“It's very moving to know that we share something with species so far away. And the possibility of entering the mind of a dreaming bird – of hearing the sounds of its dreams. is a temptation that cannot be resisted.”

A few years ago, Dr. Mindlin and his colleagues discovered that these patterns of neuronal activity were transmitted to the syringe muscle, the bird's vocal organ.

They are able to capture sleeping birds' muscle activity data via recording electrodes called electromyograms and convert it into a synthetic song using a dynamical systems model.

“For the past 20 years, I have been studying the physics of bird calls and how muscular information is translated into calls,” Dr. Mindlin said.

“In this way, we can use the muscle activity patterns as time-dependent parameters in a bird song production model and synthesize the corresponding song.”

Trill electromyographic activity recorded during sleep and synthetic sounds generated by a dynamic model.Image credit: Doppler other., doi: 10.1063/5.0194301.

Many birds have complex muscle structures, so translating syringe activity into calls is a bit difficult.

“For this first piece, we chose Wonderful Kiskadi (Pitangus sulfuratus)“It's a member of the flycatcher family, a species for which we recently discovered the physical mechanism of its song and showed some simplifications,” Dr. Mindlin said.

“In other words, we selected species for which the first steps of this program were viable.”

The authors heard the sound emerge from the data of birds dreaming of territorial battles by raising the tops of their wings, a gesture reminiscent of calls used during daytime conflicts. I was incredibly moved.

“Imagining that lonely bird reenacting its territorial battles in my dreams really resonated with me. We have more in common with other species than we often realize.” said Dr. Mindlin.

This study presents biophysics as a new exploratory tool that can open the door to the quantitative study of dreams.

“We are interested in interacting with dreaming birds using these syntheses that can be implemented in real time,” Dr. Mindlin said.

“And for species that learn, to address questions about the role of sleep during learning.”

of study It was published in the magazine chaos.

_____

Juan F. Doppler other. 2024. Bird dream synthesis was featured. chaos 34 (4): 043103; doi: 10.1063/5.0194301

Source: www.sci.news