MNGIE
MNGIE / Mitochondrial Neurogastrointestinal Encephalomyopathy, - ECGF1/TYMF
Clinical Features
Myoneurogastrointestinal encephalopathy, or mitochondrial neurogastrointestinal encephalopathy syndrome, is a multisystem disorder clinically characterized by onset between the second and fifth decade of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, thin body habitus, peripheral neuropathy, and myopathy. Laboratory studies of MNGIE patients demonstrate defects in oxidative phosphorylation, including lactic acidosis, ragged red fibers in skeletal muscle biopsies, ultrastructurally abnormal mitochondria, and decreased activities of the mitochondrial respiratory chain enzymes.
Genetic Information
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is most frequently caused by mutations in the gene encoding the enzyme thymidine phosphorylase (ECGF1). Pathogenic mutations of the mitochondrial polymerase gamma gene (POLG1) were also described in a form of MNGIE without leukoencephalopathy.
Prevalence
Not known
Diagnostic
Indication
Method
1. Mutation analysis of the entire coding and flanking intronic regions with intronic primers of the ECGF1 gene by direct DNA sequencing
2. Mutation analysis of the entire coding and flanking intronic regions with intronic primers of the POLG1 gene by direct DNA sequencing
Sample Requirement
2 - 4 ml of EDTA-blood
Duration
2 - 3 weeks