title: Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction.
abstract: 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.
  
  
  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
  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.
authors.affiliation: Department 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
authors.forename: L
authors.initials: L
authors.lastname: Galmiche
authors.forename: F
authors.initials: F
authors.lastname: Jaubert
authors.forename: F
authors.initials: F
authors.lastname: Sauvat
authors.forename: S
authors.initials: S
authors.lastname: Sarnacki
authors.forename: O
authors.initials: O
authors.lastname: Goulet
authors.forename: Z
authors.initials: Z
authors.lastname: Assouline
authors.forename: V
authors.initials: V
authors.lastname: Vedrenne
authors.forename: A-S
authors.initials: AS
authors.lastname: Lebre
authors.forename: N
authors.initials: N
authors.lastname: Boddaert
authors.forename: N
authors.initials: N
authors.lastname: Brousse
authors.forename: D
authors.initials: D
authors.lastname: Chrétien
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: A
authors.initials: A
authors.lastname: Rötig
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007418:Intestinal Pseudo-Obstruction / Q000473:pathology / Q000503:physiopathology*; D007422:Intestines / Q000033:anatomy & histology / Q000502:physiology* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009130:Muscle, Smooth / Q000502:physiology* / Q000503:physiopathology*; D010085:Oxidative Phosphorylation