Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

Autism genes converge on asynchronous development of shared neuron classes

Bruna Paulsen, Silvia Velasco, Amanda J. Kedaigle, Martina Pigoni, Giorgia Quadrato, Anthony J. Deo, Xian Adiconis, Ana Uzquiano, Rafaela Sartore, Sung Min Yang, Sean Simmons, Panagiotis Symvoulidis, Kwanho Kim, Kalliopi Tsafou, Archana Podury, Catherine Abbate, Ashley Tucewicz, Samantha N. Smith, Alexandre Albanese, Lindy E. Barrett, Neville E. Sanjana, Xi Shi, Kwanghun Chung, Kasper Lage, Edward S. Boyden, Aviv Regev, Joshua Z. Levin, Paola Arlotta

Nature · 2022

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Summary

This 2022 Nature study examined how multiple genetic variants implicated in autism spectrum disorder converge on mechanisms affecting the developmental timing of shared neuron classes, using human neural organoid models. The authors suggest that asynchronous development of specific neuronal populations may represent a common biological pathway by which diverse autism-associated mutations alter brain development. The findings contribute to understanding the molecular basis of autism by identifying temporal dysregulation as a potentially unifying mechanism across genetically heterogeneous cases.

UK applicability

The findings are relevant to UK basic neuroscience research and clinical understanding of autism genetics, though the study's in vitro approach does not directly address farming, food systems, or nutritional interventions. UK clinical services and research programmes focused on developmental neurobiology may find the mechanistic insights applicable to understanding autism aetiology.

Key measures

Developmental timing and maturation kinetics of neuron classes; expression patterns of autism-associated genes; temporal synchrony of neuronal differentiation in organoids

Outcomes reported

The study investigated how autism-related genes affect the developmental timing of shared neuron classes using human neural organoid models. The research identified convergent effects of autism-associated genetic variants on asynchronous neuronal development.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Laboratory / in vitro study
Source type
Peer-reviewed study
Status
Published
Geography
United States
System type
Laboratory / in vitro
DOI
10.1038/s41586-021-04358-6
Catalogue ID
SNmojad1s0-udi7k6

Topic tags

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