Multiple choice

In humans the TYMP gene encodes the enzyme thymidine phosphorylase. 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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