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MNGIEMitochondrial Neurogastrointestinal Encephalopathy
References in periodicals archive ?
Quinzii, "CoQ10 deficiencies and MNGIE: two treatable mitochondrial disorders," Biochimica et Biophysica Acta--General Subjects, vol.
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
[3] Nonstandard abbreviations: mtDNA, mitochondrial DNA; MDDS, mitochondrial DNA depletion syndrome; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy; qPCR, quantitative PCR; Cq, threshold cycle.
Although the clinical manifestations are homogeneous and recognizable, MNGIE is often misdiagnosed, particularly early in the course of the disease before all of the clinical manifestations are apparent.
In 1999, we identified loss-of-function mutations in TP as the cause of MNGIE (8).
We studied 180 patients with symptoms suggestive of MNGIE, who were classified according to the clinical features into two groups.
Classification of the study participants generated a group of 25 MNGIE patients and a group of 155 MNGIE-like patients in addition to the 14 TP mutation carriers and 20 controls.
TP activity was virtually absent in all MNGIE patients (1.5% of controls on average), whereas carriers had substantially reduced activities (35% of controls), and MNGIE-like patients had partially reduced activities (65% of controls).
Sequencing of the TP gene in the MNGIE group confirmed the presence of homozygous or compound heterozygous mutations in all (5).
Among the diverse group of mitochondrial encephalopathies, MNGIE is a clinically recognizable disease because of its stereotypic clinical presentation.
Analysis of the TP gene sequence in suspected MNGIE patients is a valuable tool to confirm or rule out the diagnosis, but this strategy has limitations.
Consistent with previous reports (1-5), all of our MNGIE patients had TP mutations causing total or almost complete loss of TP enzyme function.