Ryan · Cell 2013 · In vitro disease modeling and high-throughput screen · n=?

Isogenic human iPSC Parkinson's model shows nitrosative stress-induced dysfunction in MEF2-PGC1α transcription.

Cited 441 times in the scientific literature.

Level 5 - mechanism / opinion, no new human data

In vitro bench research using human iPSC-derived neurons.

PubMed 24290359 · doi:10.1016/j.cell.2013.11.009 · record verified 2026-08-29

What was done

The authors used patient-derived induced pluripotent stem cells (iPSCs) differentiated into A9 dopaminergic neurons to compare A53T α-synuclein mutant cells against isogenic mutation-corrected controls. They evaluated cellular responses to basal conditions and environmental mitochondrial toxins (paraquat, maneb, and rotenone), assessed S-nitrosylation of transcription factor MEF2C and its effect on MEF2C-PGC1α transcription and apoptotic cell death, and conducted small-molecule high-throughput screening to identify potential modulators.

What was found

The abstract reports no numerical data or effect sizes. Qualitatively, A53T mutant neurons exhibited basal and toxin-induced nitrosative/oxidative stress that caused S-nitrosylation of MEF2C compared to isogenic controls. This modification inhibited the MEF2C-PGC1α transcriptional network, contributing to mitochondrial dysfunction and apoptosis. High-throughput screening flagged the MEF2C-PGC1α axis as a potential drug target.

Why it matters

The study provides a molecular mechanism for gene-environment interactions in Parkinson's disease, showing how environmental toxins and α-synuclein mutations converge to disrupt mitochondrial transcription via S-nitrosylation.

Limits

This is purely preclinical in vitro research in cultured iPSC-derived neurons, which cannot fully replicate the aging human brain or systemic pathology. The abstract reports no quantitative measurements, confidence intervals, or specific chemical hits from the high-throughput screen.

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