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Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo‐obstruction
Author(s) -
Galmiche L.,
Jaubert F.,
Sauvat F.,
Sarnacki S.,
Goulet O.,
Assouline Z.,
Vedrenne V.,
Lebre AS.,
Boddaert N.,
Brousse N.,
Chrétien D.,
Munnich A.,
Rötig A.
Publication year - 2011
Publication title -
neurogastroenterology and motility
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.489
H-Index - 105
eISSN - 1365-2982
pISSN - 1350-1925
DOI - 10.1111/j.1365-2982.2010.01595.x
Subject(s) - oxidative phosphorylation , respiratory chain , biology , mitochondrial myopathy , mitochondrial disease , mitochondrial dna , mitochondrion , mitochondrial respiratory chain , medicine , gene , gastroenterology , pathology , genetics , biochemistry
AbstractBackground 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.