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: Hugues Blondon, Marc Polivka, Francisca Joly, Bernard Flourie, Jacqueline Mikol, Bernard Messing
• Journal: Gastroenterologie clinique et biologique (Gastroenterol Clin Biol) 2005 Aug-Sep Vol. 29 Issue 8-9 Pg. 773-8 ISSN: 0399-8320 [Print] France
• PMID: 16294144 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Thymidine Phosphorylase

Topics

• Adult
• Female
• Humans
• Intestinal Mucosa (metabolism)
• Intestinal Pseudo-Obstruction (diagnosis, metabolism)
• Intestines (pathology)
• Male
• Mitochondria (metabolism)
• Mitochondrial Encephalomyopathies (diagnosis, genetics, metabolism)
• Muscle, Smooth (metabolism, pathology)
• Mutation
• Thymidine Phosphorylase (genetics)