Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy.
Neurogastroenterol Motil
; 21(6): 627-31, 2009 Jun.
Article
en En
| MEDLINE
| ID: mdl-19368660
ABSTRACT
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal-recessive multisystemic disorder with predominant gastrointestinal involvement, presenting with variable degrees of gut dysmotility up to frank chronic intestinal pseudoobstruction. Despite major advances in understanding its basic molecular pathogenesis in recent years, the distinct mechanisms and pathoanatomical substrate underlying MNGIE-associated gastrointestinal dysmotility are still widely unknown. As yet, though their critical role in proper gastrointestinal transit in terms of spontaneous pacemaker activity and enteric neurotransmission is well established, the population of the interstitial cells of Cajal (ICC) has not been investigated in MNGIE. Therefore, we examined small bowel samples of a well-characterized MNGIE patient by using conventional histology and immunohistochemistry techniques. The ICC network was studied by immunohistochemistry for the tyrosine kinase Kit (CD117), known to reliably detect ICCs, while mucosal mast cells served as an internal and normal small bowel specimen as external controls. At a light microscopic level, no gross structural alteration of the bowel wall composition and its neuromuscular elements was noted. However, a complete absence of Kit immunoreactive cells could be demonstrated in regions where ICCs are normally abundant, while internal and external controls retained strong Kit positivity. In conclusion, our preliminary results provide a first evidence for an alteration of the ICC network in MNGIE, and support the notion that ICC loss might be an early pathogenetic event in MNGIE-associated gut motor dysfunction before significant myopathic and/or neuropathic structural changes occur.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Encefalomiopatías Mitocondriales
/
Enfermedades Gastrointestinales
/
Red Nerviosa
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Neurogastroenterol Motil
Asunto de la revista:
GASTROENTEROLOGIA
/
NEUROLOGIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Alemania