A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.

The article discusses a study on a case of a nonstop messenger RNA (mRNA) mutation in the TYMP gene in a mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patient with severe neuropathy. The levels of TYMP mRNA and thymidine phosphorylase (TP) protein in the patient and other subjects were assessed. The absence of nonstop mRNA decay (NSD) in the case and the possibility that the main cellular quality control system happens at translational or post-translational levels are explained.