Prolonged Gastrointestinal Transit Times and Dysmotility in m.3243A>G Mitochondrial Disease.

ABSTRACT:

Background

Gastrointestinal (GI) symptoms are frequently reported from carriers of the pathogenic mitochondrial DNA variant m.3243A>G, causing decreased mitochondrial adenosine triphosphate (ATP) production. ATP deficiency may adversely affect both autonomic neurogenic and myogenic regulation of GI motility, contributing to the symptoms. This study examined if carriers of m.3243A>G exhibit GI dysmotility, characterized as prolonged segmental transit times and decreased motility indices.

Methods

Twenty-two Danish carriers of m.3243A>G and 22 healthy, sex- and age-matched controls with body mass index < 26 kg/m² were included. Symptoms were assessed using the validated questionnaires Gastroparesis Cardinal Symptoms Index (GCSI) and Gastrointestinal Symptom Rating Sc

SUBMITTER: Nielsen SR 

PROVIDER: S-EPMC12623286 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature