title: Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).
abstract: We report 3 new cases of Mitochondrial-Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE) (or Pseudo-Obstruction-Leukoencephalopathy-Intestinal-Pseudoobstruction Syndrome [POLIP]), a rare disease that associates chronic intestinal pseudo-obstruction (CIPO) and neurological symptoms. A review of the 72 reported cases together with these 3 cases revealed that this condition was associated with (a) a specific cluster of neurological symptoms including leukoencephalopathy (96%), polyneuropathy (96%), ophthalmoplegia (91%) and hearing loss (55%); (b) a CIPO syndrome with the presence of small bowel diverticulae (53%); and (c) mitochondrial cytopathy in 36 of the 37 tested patients (2 of our 3 cases), and thymidine phosphorylase gene mutations in all the 37 tested patients (2 of our cases). The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s). In 3 cases, including 2 of our 3 patients, mitochondrial abnormalities were evidenced at the ultrastructural level in digestive smooth muscle demonstrating that the pathogenesis of gastrointestinal involvement was directly related to mitochondrial alterations in digestive smooth muscle cells.
authors.affiliation: Service d'Hépato-gastroentérologie et d'Assistance Nutritive, Hôpital Lariboisière, 75475 Paris Cedex 10.
authors.forename: Hugues
authors.initials: H
authors.lastname: Blondon
authors.forename: Marc
authors.initials: M
authors.lastname: Polivka
authors.forename: Francisca
authors.initials: F
authors.lastname: Joly
authors.forename: Bernard
authors.initials: B
authors.lastname: Flourie
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Mikol
authors.forename: Bernard
authors.initials: B
authors.lastname: Messing
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007413:Intestinal Mucosa / Q000378:metabolism*; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis / Q000378:metabolism*; D007422:Intestines / Q000473:pathology; D008297:Male; D008928:Mitochondria / Q000378:metabolism*; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D009130:Muscle, Smooth / Q000378:metabolism* / Q000473:pathology; D009154:Mutation; D013939:Thymidine Phosphorylase / Q000235:genetics
chemical_list: D013939:Thymidine Phosphorylase