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Article

Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

  • Authors:
    • Bum Chun Suh
    • Ha-Neul Jeong
    • Byung Suk Yoon
    • Ji Hoon Park
    • Hye Jin Kim
    • Sun Wha Park
    • Jung Hee Hwang
    • Byung-Ok Choi
    • Ki Wha Chung
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea, Department of Biological Science, Kongju National University, Gongju, Republic of Korea, DNA Analysis Division, National Forensic Service, Seoul, Republic of Korea, Department of Neurology, Ewha Womans University School of Medicine, Seoul, Republic of Korea
  • Pages: 17-22
    |
    Published online on: May 16, 2013
       https://doi.org/10.3892/mmr.2013.1479
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Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), an autosomal recessive multiorgan disease, frequently associated with mutations in the thymidine phosphorylase (TYMP) gene. TYMP encodes thymidine phosphorylase (TP), which has an essential role in the nucleotide salvage pathway for mitochondrial DNA (mtDNA) replication. This study reports an MNGIE patient with novel compound heterozygous missense mutations (Thr151Pro and Leu270Pro) in TYMP. Each mutation was inherited from one parent. Neither mutation was found in the controls and the mutation sites were well conserved between different species. Neither large deletion nor causative point mutations were found in the mtDNA. The patient presented with MNGIE symptoms, including gastrointestinal discomfort, external ophthalmoplegia, pigmentary retinopathy and demyelinating type diffuse sensory motor polyneuropathy. The patient demonstrated an early-onset but mild phenotype, with 9.6% TP activity; therefore, patients with these compound heterozygous mutations may exhibit a mild phenotype with a variable onset age according to TP activity level.
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Copy and paste a formatted citation
Spandidos Publications style
Suh BC, Jeong H, Yoon BS, Park JH, Kim HJ, Park SW, Hwang JH, Choi B and Chung KW: Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Med Rep 8: 17-22, 2013.
APA
Suh, B.C., Jeong, H., Yoon, B.S., Park, J.H., Kim, H.J., Park, S.W. ... Chung, K.W. (2013). Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Molecular Medicine Reports, 8, 17-22. https://doi.org/10.3892/mmr.2013.1479
MLA
Suh, B. C., Jeong, H., Yoon, B. S., Park, J. H., Kim, H. J., Park, S. W., Hwang, J. H., Choi, B., Chung, K. W."Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)". Molecular Medicine Reports 8.1 (2013): 17-22.
Chicago
Suh, B. C., Jeong, H., Yoon, B. S., Park, J. H., Kim, H. J., Park, S. W., Hwang, J. H., Choi, B., Chung, K. W."Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)". Molecular Medicine Reports 8, no. 1 (2013): 17-22. https://doi.org/10.3892/mmr.2013.1479
Copy and paste a formatted citation
x
Spandidos Publications style
Suh BC, Jeong H, Yoon BS, Park JH, Kim HJ, Park SW, Hwang JH, Choi B and Chung KW: Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Med Rep 8: 17-22, 2013.
APA
Suh, B.C., Jeong, H., Yoon, B.S., Park, J.H., Kim, H.J., Park, S.W. ... Chung, K.W. (2013). Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Molecular Medicine Reports, 8, 17-22. https://doi.org/10.3892/mmr.2013.1479
MLA
Suh, B. C., Jeong, H., Yoon, B. S., Park, J. H., Kim, H. J., Park, S. W., Hwang, J. H., Choi, B., Chung, K. W."Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)". Molecular Medicine Reports 8.1 (2013): 17-22.
Chicago
Suh, B. C., Jeong, H., Yoon, B. S., Park, J. H., Kim, H. J., Park, S. W., Hwang, J. H., Choi, B., Chung, K. W."Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)". Molecular Medicine Reports 8, no. 1 (2013): 17-22. https://doi.org/10.3892/mmr.2013.1479
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