Marco Gentile

Rare AFG3L2 and POLG Variants Suggest a Role for Mitochondrial Dysfunction in Enteric Neuronal Vulnerability in Idiopathic Achalasia

Findings support a potential link between mitochondrial dysfunction, enteric neurodegeneration, and idiopathic achalasia and rare mitochondrial-related variants may contribute to disease susceptibility in selected individuals by increasing vulnerability of inhibitory enteric neurons, although functional validation and larger studies are required.