Related Experiment Video
Updated: May 25, 2026
10:34
An In-vitro Preparation of Isolated Enteric Neurons and Glia from the Myenteric Plexus of the Adult Mouse
Published on: August 7, 2013
Genetics of human enteric neuropathies.
Emanuele Panza1, Charles H Knowles, Claudio Graziano
1Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
Progress in Neurobiology
|January 24, 2012
Summary
Recent advances illuminate the molecular basis of enteric nervous system development and associated genetic disorders. This review focuses on clinical insights into enteric neuropathies, including Hirschsprung disease, aiding diagnosis and treatment.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- The enteric nervous system's development is complex, with molecular mechanisms recently elucidated.
- Aberrant genetic development leads to increasingly recognized enteric neuropathies.
- A gap exists in recent clinical reviews of these severe disorders.
Purpose of the Study:
- To review molecular pathogenesis of enteric neuropathies from a clinical viewpoint.
- To consolidate knowledge on disorders with infantile aganglionic Hirschsprung phenotype.
- To discuss conditions with less pronounced structural abnormalities.
Main Methods:
- Literature review focusing on molecular pathogenesis.
- Clinical perspective integration.
- Analysis of genetic and developmental mechanisms.
Main Results:
- Significant advances in understanding molecular pathways of enteric nervous system development.
- Recognition of diverse enteric neuropathies linked to genetic aberrations.
- Identification of clinical implications for diagnosis and screening.
Conclusions:
- Enhanced understanding of molecular pathogenesis aids clinical management of enteric neuropathies.
- Implications for improved diagnosis, screening, and potential reparative strategies are presented.
- This review provides a timely clinical perspective on these disorders.
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