A recent study has provided direct evidence linking mitochondrial dysfunction in the brain with Autism Spectrum Disorder (ASD) and its associated communication deficits. This groundbreaking research could potentially pave the way for novel therapeutic interventions targeting the mitochondrial electron transport chain complex I, a key component of cellular energy production.

The study, published in the American Journal of Psychiatry, used positron emission tomography (PET) scans with a specific radioligand that binds to the mitochondrial electron transport chain complex I. This allowed the researchers to examine the distribution of mitochondrial dysfunction in the living brains of individuals with ASD.

The study involved 23 adult males with high-functioning ASD and 24 typically developed males, matched for age, parental socioeconomic background, and IQ. The researchers found that participants with ASD had significantly decreased availability of the radioligand, indicating mitochondrial dysfunction, specifically in the anterior cingulate cortex, a brain region associated with social behavior and communication.

Interestingly, the severity of this mitochondrial dysfunction was found to correlate with the severity of social communication deficits in individuals with ASD. This suggests a direct link between mitochondrial dysfunction and the core symptoms of ASD.

While previous studies have implicated mitochondrial dysfunction in the pathophysiology of ASD, this is the first study to demonstrate this link in living brains. The findings of this study support the possibility that mitochondrial electron transport chain complex I could be a novel therapeutic target for the core symptoms of ASD.

It’s important to note that while these findings are promising, further research is needed to fully understand the implications of these results and to develop effective therapeutic strategies.

https://www.researchgate.net/publication/336134611_Role_of_Mushrooms_in_Autism

“Autistic people as a group are heterogeneous, with a wide range of presentations, challenges and support needs. That heterogeneity is commonly weaponized against more able autistic people, often by autism researchers or parents who wish to highlight the needs of their autistic children who have higher support needs. This tactic, however, can backfire and increase harm to the most vulnerable autistic people because it separates this group from the insights gained from autistic scholarship. Focusing on aspects of autistic experience that we all share may be more fruitful and lead more quickly to our shared goal of improved outcomes for all autistic people. “

https://www.spectrumnews.org/opinion/viewpoint/weaponized-heterogeneity-only-harms-the-most-vulnerable-autistic-people/

https://www.livescience.com/autism-prenatal-brain-differences

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results in social-communication impairments, as well as restricted and repetitive behaviors. Moreover, ASD is more prevalent in males, with a male to female ratio of 4 to 1. Although the underlying etiology of ASD is generally unknown, recent advances in genome sequencing have facilitated the identification of a host of associated genes. Among these, synaptic proteins such as cell adhesion molecules have been strongly linked with ASD. Interestingly, many large genome sequencing studies exclude sex chromosomes, which leads to a shift in focus toward autosomal genes as targets for ASD research. However, there are many genes on the X chromosome that encode synaptic proteins, including strong candidate genes. Here, we review findings regarding two members of the neuroligin (NLGN) family of postsynaptic adhesion molecules, NLGN3 and NLGN4. Neuroligins have multiple isoforms (NLGN1-4), which are both autosomal and sex-linked. The sex-linked genes, NLGN3 and NLGN4, are both on the X chromosome and were among the first few genes to be linked with ASD and intellectual disability (ID). In addition, there is a less studied human neuroligin on the Y chromosome, NLGN4Y, which forms an X-Y pair with NLGN4X. We will discuss recent findings of these neuroligin isoforms regarding function at the synapse in both rodent models and human-derived differentiated neurons, and highlight the exciting challenges moving forward to a better understanding of ASD/ID.

https://www.frontiersin.org/articles/10.3389/fnsyn.2020.00033/full?utm_source=ad&utm_medium=fb&utm_campaign=ba_sci-ib_fnsyn&fbclid=IwAR36e5QY8UEMquOtJfZgMyzHt-ml7w2jZZG8qvh1PSR36cp8WW3idTuJbE4