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NPARM in PHOX2B: why some things just should not be expanded.

Michael D Gershon¹

¹Department of Pathology and Cell Biology, Columbia University, New York, New York 10032, USA. mdg4@columbia.edu

The Journal of Clinical Investigation

|August 28, 2012

Summary

Neurocristopathies like neuroblastoma (NB) and Hirschsprung disease (HSCR) are clarified by PHOX2B mutation research. A mouse model shows this mutation disrupts neurogenesis and promotes tumors, offering insights into these complex developmental disorders.

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A Rapid In Vivo Bioassay for Developmentally Active Enhancers

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Area of Science:

Developmental biology
Neuroscience
Genetics

Background:

Neurocristopathies, disorders arising from neural crest cell development, remain poorly understood.
The association of neuroblastoma (NB), Hirschsprung disease (HSCR), and congenital central hypoventilation syndrome (CCHS) is a complex neurocristopathy linked to PHOX2B mutations.

Discussion:

A mouse model with a disease-linked PHOX2B mutation was used to investigate the underlying mechanisms.
The study examines how PHOX2B mutations affect neural crest cell development, neurogenesis, and tumorigenesis.

Key Insights:

Mutant PHOX2B promotes tumorigenesis and disrupts neurogenesis, sympathetic gangliogenesis, and enteric nervous system development.
PHOX2B mutations lead to decreased proliferation of neural crest-derived cells, favoring glial development over neuronal differentiation.
This research highlights a potential common origin for the sympathetic and enteric nervous systems.

Outlook:

The findings offer new perspectives on the pathogenesis of NB-HSCR-CCHS.
Understanding these mechanisms may lead to improved treatments for gastrointestinal dysfunction in HSCR patients.