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Updated: Jun 8, 2026
A Mouse Model of Intestinal Partial Obstruction
Published on: March 5, 2018
Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction
L Galmiche1, F Jaubert, F Sauvat
1Department of Pathology and Tumorothèque, Faculty of Medicine, Hôpital Necker Enfants-Malades and Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Paris, France. louise.galmiche@inserm.fr
Insights
Mitochondrial oxidative phosphorylation deficiency is not a common cause of pediatric chronic intestinal pseudo-obstruction (CIPO). This study found no evidence of enzyme deficiency or genetic mutations in children with CIPO, unlike in adults.
Area of Science:
- Gastroenterology
- Pediatric Medicine
- Biochemistry
Background:
- Chronic intestinal pseudo-obstruction (CIPO) is a severe motility disorder affecting the digestive tract, often of unknown origin in children.
- Mitochondrial oxidative phosphorylation disorders, linked to specific gene mutations, can present as CIPO in some patients.
- The study investigated the potential role of respiratory chain enzyme deficiency in pediatric CIPO.
Purpose of the Study:
- To investigate oxidative phosphorylation in the smooth muscle of the small bowel and/or colon in children with primary CIPO.
- To determine if respiratory chain enzyme deficiency is a common cause of CIPO in the pediatric population.
- To explore potential genetic links to mitochondrial dysfunction in these patients.
Main Methods:
- Studied eight children with CIPO and 12 pediatric controls.
- Collected clinical, radiological, and pathological data.
- Measured respiratory chain enzymatic activity in isolated smooth muscle and sequenced relevant mitochondrial genes (TYMP, POLG, mtDNA tRNA(leu(UUR)), tRNA(lys)).
Main Results:
- No evidence of mitochondrial dysfunction was found through pathological or radiological data.
- No respiratory chain enzyme deficiency was detected in children with CIPO.
- In myogenic CIPO, increased respiratory enzymes and citrate synthase activities were observed in the small bowel/colon, but not in neurogenic or unclassified CIPO. No mutations were found in the sequenced genes.
Conclusions:
- Oxidative phosphorylation deficiency is not a common cause of childhood CIPO.
- Unlike in adult patients, genetic and enzymatic abnormalities related to mitochondrial function are infrequent in pediatric CIPO.
- Further research may be needed to identify the underlying causes of CIPO in children.
Background:
Chronic intestinal pseudo-obstruction (CIPO) is a severe disease of the digestive tract motility. In pediatric population, CIPO remains of unknown origin for most patients. Chronic intestinal pseudo-obstruction is also a common feature in the course of mitochondrial oxidative phosphorylation disorders related for some patients to mutations in TYMP, POLG1, mtDNA tRNA(leu(UUR)) or tRNA(lys) genes. We hypothesized that CIPOs could be the presenting symptom of respiratory chain enzyme deficiency and thus we investigated oxidative phosphorylation in small bowel and/or colon smooth muscle of primary CIPO children.
Methods:
We studied eight children with CIPO and 12 pediatric controls. We collected clinical, radiological and pathological data and measured respiratory chain enzymatic activity in isolated smooth muscle of the small bowel and/or the colon. We also sequenced TYMP, POLG, mtDNA tRNA(leu(UUR)) and tRNA(lys) genes.
Key Results:
Neither pathological nor radiological data were in favor of a mitochondrial dysfunction. No respiratory chain enzyme deficiency was detected in CIPO children. In myogenic CIPO, respiratory enzymes and citrate synthase activities were increased in small bowel and/or colon whereas no abnormality was noted in neurogenic and unclassified CIPO. Levels of enzyme activities were higher in control small bowel than in control colon muscle. Sequencing of TYMP, POLG, mtDNA tRNA(leu(UUR)) and tRNA(lys) genes and POLG gene did not reveal mutation for any of the patients.
Conclusions & Inferences:
The normal enzymatic activities as the lack of radiological and genetic abnormalities indicate that, at variance with adult patients, oxidative phosphorylation deficiency is not a common cause of childhood CIPO.
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