digestive smooth muscle mitochondrial myopathy

Synopsis

 mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE) (pseudo-obstruction-leukoencephalopathy-intestinal-pseudoobstruction syndrome) [POLIP])

• It is a rare disease that associates chronic intestinal pseudo-obstruction (CIPO) and neurological symptoms.
• 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%);
  • (c) mitochondrial cytopathy and thymidine phosphorylase gene mutations

The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s).

Mitochondrial abnormalities are 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.

References

 Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE). Blondon H, Polivka M, Joly F, Flourie B, Mikol J, Messing B. Gastroenterol Clin Biol. 2005 Aug-Sep;29(8-9):773-8. PMID: 16294144