Jul 9, 2025 05:08 PM
Major autism study uncovers biologically distinct subtypes, paving the way for precision diagnosis and care
https://www.eurekalert.org/news-releases/1090317
INTRO: Researchers at Princeton University and the Simons Foundation have identified four clinically and biologically distinct subtypes of autism, marking a transformative step in understanding the condition’s genetic underpinnings and potential for personalized care.
Analyzing data from over 5,000 children in SPARK, an autism cohort study funded by the Simons Foundation, the researchers used a computational model to group individuals based on their combinations of traits. The team used a “person-centered” approach that considered a broad range of over 230 traits in each individual, from social interactions to repetitive behaviors to developmental milestones, rather than searching for genetic links to single traits.
This approach enabled the discovery of clinically relevant autism subtypes, which the researchers linked to distinct genetic profiles and developmental trajectories, offering new insights into the biology underlying autism. Their results were published July 9 in Nature Genetics... (MORE - details, no ads)
Creatine may help the brain, not just muscles
https://www.eurekalert.org/news-releases/1090503
INTRO: Creatine is popularly known as a muscle-building supplement, but its influence on human muscle function can be a matter of life or death.
“Creatine is very crucial for energy-consuming cells in skeletal muscle throughout the body, but also in the brain and in the heart,” said Chin-Yi Chen, a research scientist at Virginia Tech’s Fralin Biomedical Research Institute at VTC.
Chen is part of a research team working to develop a technique that uses focused ultrasound to deliver creatine directly to the brain. The work, being conducted in the lab of Fralin Biomedical Research Institute Assistant Professor Cheng-Chia “Fred” Wu, will be supported by a $30,000 grant from the Association for Creatine Deficiencies.
Creatine plays a vital role in the brain, where it interacts with phosphoric acid to help create adenosine triphosphate, a molecule essential for energy production in living cells. In addition to its role in energy production, creatine also influences neurotransmitter systems.
For example, creatine influences the brain’s major inhibitory pathways that use the neurotransmitter gamma-aminobutyric acid, which limits neuronal excitability in the central nervous system. It may play a role in a variety of functions, including seizure control, learning, memory, and brain development.
A growing body of research suggests that creatine may itself function as neurotransmitter, as it is delivered to neurons from glial cells in the brain and can influence signaling processes between other neurons. While creatine deficiency disorders can weaken the skeletal muscle and the heart, they can also severely affect the brain. Many patients see increased muscle mass and body weight with creatine supplements, but they often continue to face neurodevelopmental challenges that can hinder their ability to speak, read, or write... (MORE - details, no ads)
https://www.eurekalert.org/news-releases/1090317
INTRO: Researchers at Princeton University and the Simons Foundation have identified four clinically and biologically distinct subtypes of autism, marking a transformative step in understanding the condition’s genetic underpinnings and potential for personalized care.
Analyzing data from over 5,000 children in SPARK, an autism cohort study funded by the Simons Foundation, the researchers used a computational model to group individuals based on their combinations of traits. The team used a “person-centered” approach that considered a broad range of over 230 traits in each individual, from social interactions to repetitive behaviors to developmental milestones, rather than searching for genetic links to single traits.
This approach enabled the discovery of clinically relevant autism subtypes, which the researchers linked to distinct genetic profiles and developmental trajectories, offering new insights into the biology underlying autism. Their results were published July 9 in Nature Genetics... (MORE - details, no ads)
Creatine may help the brain, not just muscles
https://www.eurekalert.org/news-releases/1090503
INTRO: Creatine is popularly known as a muscle-building supplement, but its influence on human muscle function can be a matter of life or death.
“Creatine is very crucial for energy-consuming cells in skeletal muscle throughout the body, but also in the brain and in the heart,” said Chin-Yi Chen, a research scientist at Virginia Tech’s Fralin Biomedical Research Institute at VTC.
Chen is part of a research team working to develop a technique that uses focused ultrasound to deliver creatine directly to the brain. The work, being conducted in the lab of Fralin Biomedical Research Institute Assistant Professor Cheng-Chia “Fred” Wu, will be supported by a $30,000 grant from the Association for Creatine Deficiencies.
Creatine plays a vital role in the brain, where it interacts with phosphoric acid to help create adenosine triphosphate, a molecule essential for energy production in living cells. In addition to its role in energy production, creatine also influences neurotransmitter systems.
For example, creatine influences the brain’s major inhibitory pathways that use the neurotransmitter gamma-aminobutyric acid, which limits neuronal excitability in the central nervous system. It may play a role in a variety of functions, including seizure control, learning, memory, and brain development.
A growing body of research suggests that creatine may itself function as neurotransmitter, as it is delivered to neurons from glial cells in the brain and can influence signaling processes between other neurons. While creatine deficiency disorders can weaken the skeletal muscle and the heart, they can also severely affect the brain. Many patients see increased muscle mass and body weight with creatine supplements, but they often continue to face neurodevelopmental challenges that can hinder their ability to speak, read, or write... (MORE - details, no ads)
