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Article

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

International journal of molecular sciences - 28 Jul 2026

Latiano Anna, Tavano Francesca, Micale Lucia, Bisceglia Luigi, Biagini Tommaso, Mantini Giulia, Gentile Marco, Merla Antonio, Bossa Fabrizio, Biscaglia Giuseppe, Latiano Tiziana, Bisceglia Alessandra Pia, Annese Vito, Castori Marco, Mazza Tommaso, Palmieri Orazio

Abstract excerpt

Idiopathic achalasia is a rare esophageal motility disorder characterized by the selective degeneration of inhibitory myenteric neurons. Its genetic basis remains poorly defined. We investigated whether rare coding variants may contribute to disease susceptibility. Exome sequencing was performed in 31 individuals with idiopathic achalasia and seven unaffected relatives. Candidate variants were prioritized using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42589413
DOI: 10.3390/ijms27156756
PMCID: PMC13466295

Genes

AFG3L2
POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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