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NGLY1 mutations cause protein aggregation in human neurons.

Andreea Manole¹, Thomas Wong¹, Amanda Rhee¹

¹Laboratory of Genetics, The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.

|December 1, 2023

Summary

N-glycanase 1 (NGLY1) deficiency causes neurodevelopmental disorders. Researchers used patient stem cells to create neurons, revealing impaired protein clearance and mitochondrial issues, offering therapeutic targets.

Keywords:

CP: Neuroscience NGLY1 deficiency chaperones fragmented mitochondria neural cells organoids protein aggregates

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Area of Science:

Neuroscience
Genetics
Cell Biology

Background:

Biallelic mutations in N-glycanase 1 (NGLY1) cause a rare multisystem disorder.
NGLY1's role in human neural cells and specific disease phenotypes remains unclear.
NGLY1 deficiency symptoms include developmental delay, intellectual disability, neuropathy, and seizures.

Purpose of the Study:

To elucidate the cellular mechanisms underlying NGLY1 deficiency phenotypes.
To investigate the function of NGLY1 in human cortical neurons.
To identify potential therapeutic targets for NGLY1-related disorders.

Main Methods:

Direct conversion of NGLY1 patient-derived induced pluripotent stem cells (iPSCs) into functional cortical neurons.
Transcriptomic, proteomic, and functional analyses of NGLY1-deficient neurons.
Laser capture microscopy coupled with mass spectrometry for protein aggregate characterization.

Main Results:

NGLY1-deficient neurons exhibit impaired protein aggregate clearance, mitochondrial dysfunction, and synaptic deficits.
These cellular phenotypes were observed in mature neurons but not astrocytes.
Introduction of a functional NGLY1 gene rescued the observed phenotypes.
Specific protein aggregates characteristic of NGLY1 deficiency were identified.

Conclusions:

NGLY1 is crucial for maintaining protein homeostasis, mitochondrial function, and synaptic integrity in human neurons.
Loss of NGLY1 function leads to specific cellular pathologies contributing to NGLY1 deficiency.
The study provides a cellular model for NGLY1 deficiency and identifies key pathways for future therapeutic interventions.