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Related Experiment Video

Updated: May 9, 2026

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants

A Novel Experimental and Analytical Approach to the Multimodal Neural Decoding of Intent During Social Interaction in Freely-behaving Human Infants

Published on: October 4, 2015

Spliceosome complex and neurodevelopmental disorders.

Hannah M Deutsch¹, Yuanquan Song², Dong Li³

¹Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA, USA.

Current Opinion in Genetics & Development

|May 16, 2025

Summary

This summary is machine-generated.

Proper RNA splicing is crucial for neurodevelopment. Defects in spliceosome function cause neurodevelopmental disorders (NDDs), impacting gene expression and cellular function, often with tissue-specific effects.

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Area of Science:

Molecular Biology
Genetics
Neuroscience

Background:

Neurodevelopment depends on precise gene expression, regulated by RNA splicing.
The spliceosome, a complex of RNA and proteins, processes pre-mRNA by removing introns and joining exons.
Errors in spliceosome components lead to mis-splicing and spliceosomopathies, affecting cellular function.

Purpose of the Study:

To discuss spliceosomopathies that manifest as neurodevelopmental disorders (NDDs).
To focus on genes that code for spliceosome components implicated in NDDs.
To highlight the tissue-specific nature of spliceosomopathy presentations.

Main Methods:

Review of literature on spliceosomopathies and NDDs.
Analysis of genetic variants in spliceosome-coding genes.
Discussion of the impact of splicing defects on neurodevelopmental processes.

Main Results:

Pathogenic variants in spliceosome genes cause RNA mis-splicing, leading to NDDs.
Spliceosomopathies can exhibit tissue-specific effects, not always presenting as NDDs.
The study emphasizes the critical role of spliceosome function in nervous system development.

Conclusions:

Dysregulation of RNA splicing by spliceosome defects is a significant cause of NDDs.
Understanding spliceosomopathies is key to deciphering the genetic basis of certain NDDs.
Targeting spliceosome function may offer therapeutic avenues for NDDs.