Abstract
Background: MNGIE syndrome (mitochondrial neurogastrointestinal encephalopathy) is caused by mutations in the thymidine phosphorylase (TP) gene. It is characterized by progressive external ophthalmoparesis, neuropathy, leukoencephalopathy and gastrointestinal dysmotility leading to cachexia and early death. The reduction in TP activity results in reduced mtDNA synthesis, causing impaired mitochondrial function. Development of cell models would be helpful in the assessment of potential therapeutic options.
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