Document Detail

Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).
MedLine Citation:
PMID:  16294144     Owner:  NLM     Status:  MEDLINE    
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.
Hugues Blondon; Marc Polivka; Francisca Joly; Bernard Flourie; Jacqueline Mikol; Bernard Messing
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Gastroentérologie clinique et biologique     Volume:  29     ISSN:  0399-8320     ISO Abbreviation:  Gastroenterol. Clin. Biol.     Publication Date:    2005 Aug-Sep
Date Detail:
Created Date:  2005-11-18     Completed Date:  2005-12-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7704825     Medline TA:  Gastroenterol Clin Biol     Country:  France    
Other Details:
Languages:  eng     Pagination:  773-8     Citation Subset:  IM    
Service d'Hépato-gastroentérologie et d'Assistance Nutritive, Hôpital Lariboisière, 75475 Paris Cedex 10.
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MeSH Terms
Intestinal Pseudo-Obstruction / diagnosis,  metabolism*
Intestines / metabolism*,  pathology
Mitochondria / metabolism*
Mitochondrial Encephalomyopathies / diagnosis,  genetics,  metabolism*
Muscle, Smooth / metabolism*,  pathology
Thymidine Phosphorylase / genetics
Reg. No./Substance:
EC Phosphorylase

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