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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

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PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention.

Emily M Johnson^1,2, Alexandra D Ishak¹, Paige E Naylor¹

¹Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.

Cerebral Cortex (New York, N.Y. : 1991)

|July 31, 2018

Summary

Noonan syndrome (NS) in children shows distinct brain structural changes, including altered gray matter and cortical thickness. These findings link NS to neurodevelopmental and cognitive deficits like inattention and memory issues.

Keywords:

ADHD Noonan syndrome hippocampus striatum structural imaging

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Area of Science:

Neuroscience
Developmental Biology
Genetics

Background:

The Ras-MAPK pathway is crucial for neural development and synaptic signaling.
Mutations in this pathway cause neurodevelopmental disorders known as Rasopathies, with Noonan syndrome (NS) being the most prevalent.
Previous research has primarily focused on genetic and cellular aspects of NS, leaving its effects on the human brain largely unexplored.

Purpose of the Study:

To investigate the neuroanatomical and cognitive effects of PTPN11-related Noonan syndrome in children.
To identify specific brain regions and functions impacted by NS.
To understand the role of the Ras-MAPK pathway in human brain development.

Main Methods:

Collected neuroimaging (MRI) and cognitive data from 12 children with PTPN11-related NS (ages 4-11) and 12 age/sex-matched typically developing controls.
Analyzed gray matter volume, cortical thickness, and surface area using advanced imaging techniques.
Assessed cognitive functions, including attention, hyperactivity, and memory.

Main Results:

Observed reduced gray matter volume in the bilateral corpus striatum (Cohen's d = -1.0 to -1.3).
Found reduced surface area in temporal regions (d = -1.8 to -2.2) and reduced cortical thickness in limbic regions including the hippocampus (d = -1.6).
Detected increased cortical thickness in frontal regions (d = 1.2 to 1.3) and significant inattention, hyperactivity, and memory deficits in children with NS.

Conclusions:

Noonan syndrome is associated with specific structural brain alterations in children, affecting regions crucial for cognitive functions.
These findings highlight the impact of NS on brain development and are linked to behavioral and learning challenges, including ADHD symptoms.
This study provides foundational insights into the neural mechanisms underlying NS and the broader role of the Ras-MAPK pathway in human brain development.