Marfan syndrome is a genetic disorder affecting approximately 1 in 5,000 people, primarily known for its cardiovascular complications. However, new research by the Institut de Neurociències of the Universitat Autònoma de Barcelona (INc-UAB) reveals that this condition also poses a significant risk to brain health.

Published in Redox Biology, the study shows that Marfan syndrome heightens the brain’s vulnerability to damage caused by reduced oxygen supply, such as heart attacks or severe hemorrhages. The research also highlights an increased risk of subsequent neurological disorders.

Using a mouse model of the disease, the research team led by Professor Francesc Jiménez-Altayó discovered that Marfan syndrome increases the risk of brain injury in both young and aged individuals. The study analyzed gene activity, evaluated biomarkers of inflammation and tissue health, and assessed the structure and function of cerebral blood vessels.

The results revealed marked changes in gene expression, particularly in young males and aged females, involving proteins related to inflammation and tissue repair. The study also uncovered disruptions in the signaling of a key regulatory protein – TGF-β (transforming growth factor beta) – as well as alterations in extracellular matrix turnover and blood vessel integrity.

“These mechanisms may help explain why individuals with Marfan syndrome face a higher risk of developing neurological problems, even in the absence of overt cardiovascular events,” says Gemma Manich, lead author of the paper.

The findings underscore the need for increased awareness of potential neurological risks in people living with Marfan syndrome. At the same time, they point to possible targets for personalized treatment approaches based on age and sex.

This research has significant implications for the management and treatment of Marfan patients, emphasizing the importance of recognizing and managing neurological risks to prevent complications and improve treatment outcomes.

The stereotype that autistic people struggle to connect with others has been debunked by a recent study, which found no significant difference in the effectiveness of how autistic and non-autistic people communicate.

Researchers from the University of Edinburgh tested 311 participants in groups where everyone was autistic, everyone was non-autistic, or a combination of both. The task involved passing on information through a chain, with each person having to remember and repeat the story heard from the researcher. The findings showed that there were no differences between the groups.

The study also explored how much participants enjoyed interacting with others, based on their perceived friendliness, ease, and awkwardness. The results revealed that non-autistic people preferred interacting with others like themselves, while autistic individuals preferred learning from fellow autistic individuals. This difference is likely due to the distinct ways that autistic and non-autistic people communicate.

The study’s lead researcher, Dr Catherine Crompton, emphasized that autism has often been associated with social impairments, both colloquially and in clinical criteria. However, this research shows that despite autistic and non-autistic people communicating differently, it is just as successful.

The findings of this study are expected to increase understanding of autistic communication styles as a difference, rather than a deficiency. As Dr Crompton noted, “This new research could lead the way to bridging the communication gap and creating more inclusive spaces for all.”

By recognizing that autistic people’s communication styles are not a deficiency, but rather a natural aspect of their neurodivergence, we can work towards reducing stigma and promoting acceptance in our communities.

The human brain is an intricate machine that weighs every social experience, from the warmth of a kind word to the sting of a harsh criticism. Researchers at Mount Sinai have made a groundbreaking discovery about how our brains process positive and negative interactions, shedding light on the underlying neural mechanisms behind common neuropsychiatric disorders like autism spectrum disorder (ASD) and schizophrenia.

For the first time, scientists have identified the specific neural pathways that regulate both positive and negative impressions of social encounters. The study, published in Nature, reveals how an imbalance between these opposing forces can lead to debilitating symptoms in ASD and schizophrenia.

“The ability to recognize and distinguish unpleasant from pleasant interactions is essential for humans to navigate their social environment,” explains Xiaoting Wu, PhD, Assistant Professor of Neuroscience at the Icahn School of Medicine at Mount Sinai. “Until now, it has been unclear how the brain assigns positivity or negativity – ‘valence’ – to social experiences, and how that information can be flexibly updated in a constantly changing environment.”
At the heart of this complex neural circuitry is the hippocampus, a region deep in the temporal lobe responsible for forming new memories, learning, and emotions. Researchers found that two neuromodulators – serotonin and neurotensin – are released into the hippocampal subregion known as ventral CA1, where they control opposing social valence assignment.
While deficits in social valence are prevalent in many neuropsychiatric disorders, their underlying neural mechanisms and pathophysiology have remained elusive. “Through our work we’ve provided the first foundational insights into the neural basis of social valence,” notes Dr. Wu. “We have demonstrated that the neuromodulators serotonin and neurotensin signal opposing valence, revealing a fundamental principle of brain function in the form of a neuromodulatory switch that allows behavioral adaptation based on social history.”

In a novel social cognitive paradigm, researchers exposed mice to negative and positive social encounters. The test mouse was then given the choice between the two, learning to associate one with a positive or negative valence. By activating a specific serotonin receptor in the brain of a mouse model of ASD, researchers were able to restore a positive impression associated with rewarding social experiences.

This breakthrough has significant implications for the development of future therapies targeting common neuropsychiatric disorders. “We identified a specific neuromodulator receptor which we then targeted to rescue social cognitive deficits in a mouse model of ASD,” Dr. Wu explains. “On a broader scale, our work provides critical insights into complex social behaviors while revealing potential therapeutic targets that can be leveraged to improve social cognitive deficits in common neuropsychiatric disorders.”
This research was supported by funding from the NIH K99 Career Development Award, NIMH BRAINS R01 Award, Alkermes Pathways Award, NARSAD Young Investigator Award, and Friedman Brain Institute Scholar Award.