Multiple choice

The TYMP gene encodes thymidine phosphorylase, a cytosolic enzyme that catalyses the phosphorylation of thymidine. The mitochondrial disease caused by mutations in the TYMP gene is

  1. Mitochondrial neurogastrointestinal encephalopathy syndrome

  2. Leigh disease

  3. Multiple sclerosis

  4. Wolff Parkinson White syndrome

  5. Diabetes mellitus and deafness
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A Correct answer
Explanation

Mitochondrial neurogastrointestinal encephalopathy syndrome is a rare autosomal recessive mitochondrial disease. Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase.

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