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Mutations in CHCHD2 cause α-synuclein aggregation.

Aya Ikeda¹, Kenya Nishioka¹, Hongrui Meng²

¹Department of Neurology, Juntendo University School of Medicine, Tokyo 113-8421, Japan.

Human Molecular Genetics

|October 11, 2019

Summary

Mutations in the CHCHD2 gene cause Parkinson's disease (PD) by disrupting mitochondrial function, which promotes the aggregation of alpha-synuclein (α-synuclein). This study provides genetic evidence linking CHCHD2 mutations to α-synuclein pathology in PD.

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Area of Science:

Neuroscience
Genetics
Mitochondrial Biology

Background:

Mutations in the CHCHD2 gene are associated with familial Parkinson's disease (PD), potentially affecting mitochondrial function.
The precise role of CHCHD2 mutations in the development of α-synuclein pathology, a hallmark of PD, remains unclear.

Purpose of the Study:

To investigate whether mitochondrial dysfunction caused by PD-linked CHCHD2 mutations contributes to α-synuclein aggregation.
To establish a genetic link between CHCHD2 mutations, mitochondrial dysfunction, and α-synuclein pathology in Parkinson's disease.

Main Methods:

Analysis of brain autopsy tissue from an individual with the CHCHD2 T61I mutation.
Utilizing induced pluripotent stem cells (iPSCs) derived from patients and Drosophila models.
Investigating α-synuclein aggregation, prion-like activity, and mitochondrial localization of CHCHD2.

Main Results:

CHCHD2 T61I mutation induced widespread Lewy pathology and significant α-synuclein aggregation in brain tissue, comparable to SNCA duplication cases.
α-Synuclein fibrils from CHCHD2 T61I brains exhibited prion-like activity similar to sporadic PD and SNCA duplication cases.
CHCHD2 T61I mutation led to α-synuclein insolubilization in iPSC-derived neurons and Drosophila models, with enhanced toxicity and altered proteolysis pathways.

Conclusions:

CHCHD2 is a critical mitochondrial factor influencing α-synuclein stability in Parkinson's disease pathogenesis.
Mitochondrial dysfunction driven by CHCHD2 mutations directly promotes α-synuclein aggregation, contributing to PD.
The study provides compelling genetic evidence for CHCHD2's role in the etiology of Parkinson's disease.