20/05/2026
Single-cell RNA-seq reveals early, motor neuron-specific mitochondrial dysfunction in ALS, shared across FUS and TARDBP mutations.
Key findings from Schweingruber, Hedlund et al.
• Transcriptional dysregulation was far stronger in iPSC-derived motor neurons than interneurons
• A core set of mitochondrial gene changes was shared across FUS P525L, FUS R495X, FUS R495X, and TARDBP M337V and extended to C9orf72-ALS patient neurons
• Mitochondrial motility was impaired in ALS motor axons even when mutant FUS stayed nuclear, pointing to an early toxic gain-of-function mechanism independent of protein mislocalization
Read the full document: https://hubs.la/Q04hgxJl0
Together, the data frame mitochondrial dysfunction as a convergent, early driver of motor neuron vulnerability, and a compelling therapeutic target.
Our human iPSC patient-derived motor neurons and ALS disease models support exactly this kind of research.
Learn more: https://hubs.la/Q04hgz5l0 or reach us at [email protected]