Related Experiment Video
Updated: Feb 6, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Common Genetic Variants Link the Abnormalities in the Gut-Brain Axis in Prematurity and Autism
Elżbieta M Sajdel-Sulkowska1,2, Monika Makowska-Zubrycka3, Katarzyna Czarzasta3
1Department of Experimental and Clinical Physiology, Center for Preclinical Research, Medical University of Warsaw, Warsaw, Poland. esulkowska@rics.bwh.harvard.edu.
Insights
This review explores the connection between prematurity and autism, highlighting the microbiota-gut-vagus-heart-brain (MGVHB) axis. Common genetic variants may link these conditions, offering potential therapeutic targets.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Prematurity and autism share overlapping symptoms including gastrointestinal, cardiovascular, cognitive, and behavioral issues.
- Altered neurodevelopment in both conditions may involve disruptions in the microbiota-gut-vagus-heart-brain (MGVHB) axis.
- A 'leaky gut' and dysbiosis are implicated in premature and autistic children, suggesting immature gut-blood barrier function.
Purpose of the Study:
- To review the link between prematurity and autism by examining shared symptoms and physiological abnormalities.
- To investigate the role of the microbiota-gut-vagus-heart-brain (MGVHB) axis in the systemic disruption accompanying altered neurodevelopment.
- To propose a hypothesis that common genetic variants link MGVHB axis abnormalities in premature and autistic pathologies.
Main Methods:
- Comparative analysis of clinical and animal studies on prematurity and autism.
- Review of data on the microbiota-gut-vagus-heart-brain (MGVHB) axis and its role in neurodevelopment.
- Examination of genetic variants, including EBF1, EEFSEC, and AGTR2, associated with preterm birth and autism risk.
Main Results:
- Increased prevalence of shared symptoms in premature and autistic children.
- Evidence suggests impaired gut-blood barrier, dysbiosis, and vagal dysregulation.
- Identification of common genetic variants (EBF1, EEFSEC, AGTR2) potentially linking prematurity and autism.
Conclusions:
- The microbiota-gut-vagus-heart-brain (MGVHB) axis is a potential pathway connecting prematurity and autism.
- Common genetic variants, particularly AGTR2, may underlie shared abnormalities.
- Understanding these links can pave the way for novel therapeutic interventions for both conditions.
Abstract:
This review considers a link between prematurity and autism by comparing symptoms, physiological abnormalities, and behavior. It focuses on the bidirectional signaling between the microbiota and the brain, here defined as the microbiota-gut-vagus-heart-brain (MGVHB) axis and its systemic disruption accompanying altered neurodevelopment. Data derived from clinical and animal studies document increased prevalence of gastrointestinal, cardiovascular, cognitive, and behavioral symptoms in both premature and autistic children and suggest an incomplete maturation of the gut-blood barrier resulting in a "leaky gut," dysbiosis, abnormalities in vagal regulation of the heart, altered development of specific brain regions, and behavior. Furthermore, this review posits the hypothesis that common genetic variants link the abnormalities in the MGVHB axis in premature and autistic pathologies. This hypothesis is based on the recently identified common genetic variants: early B cell factor 1 (EBF1), selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC), and angiotensin II receptor type 2 (AGTR2), in the maternal and infant DNA samples, associated with risk of preterm birth and independently implicated in a risk of autism. We predict that the AGTR2 variants involved in the brain maturation and oxytocin-arginine-vasopressin (OXT-AVP) pathways, related to social behavior, will contribute to our understanding of the link between prematurity and autism paving a way to new therapies.
Related Concept Videos
Hypothalamic-Pituitary Axis
Abnormal Proliferation
Common Ion Effect
Histone Variants at the Centromere
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Covalently Linked Protein Regulators
These groups modify specific amino acids in a protein....

