MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal recessive disorder associated with mutations in the thymidine phosphorylase (TYMP) gene. The main objective of this study was to characterize the genetic profiles of the deceased proband’s family members (N = 4) using...
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| Format: | Article |
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Fundacao de Pesquisas Cientificas de Ribeirao Preto
2015
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| _version_ | 1796960665501433856 |
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| author | Yong, F.L. Wang, C.W. Tan, K.S. |
| author_facet | Yong, F.L. Wang, C.W. Tan, K.S. |
| author_sort | Yong, F.L. |
| collection | UM |
| description | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal recessive disorder associated with mutations in the thymidine phosphorylase (TYMP) gene. The main objective of this study was to characterize the genetic profiles of the deceased proband’s family members (N = 4) using DNA sequencing and to determine miRNA deregulation in MNGIE using miRNA microarray profiling and bioinformatic analysis. We found that the genetic profile of the younger sister showed similar TYMP gene mutations as that of the proband with the exception of a heterozygous mutation in exon 10. The miRNA microarray revealed 55 significantly up-regulated and 65 significantly down-regulated miRNAs. These miRNAs have been implicated in various mitochondrial dynamics such as energy metabolism, Krebs cycle, mitochondria-associated apoptosis, and mitophagy. In conclusion, we demonstrate that blood miRNAs are deregulated in the pathogenesis of MNGIE and these changes may have therapeutic implications. Further experimental studies will be required to elucidate the functional miRNA-mRNA interactions in MNGIE. |
| first_indexed | 2024-03-06T05:48:03Z |
| format | Article |
| id | um.eprints-19359 |
| institution | Universiti Malaya |
| last_indexed | 2024-03-06T05:48:03Z |
| publishDate | 2015 |
| publisher | Fundacao de Pesquisas Cientificas de Ribeirao Preto |
| record_format | dspace |
| spelling | um.eprints-193592018-09-21T03:54:00Z http://eprints.um.edu.my/19359/ MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy Yong, F.L. Wang, C.W. Tan, K.S. R Medicine Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal recessive disorder associated with mutations in the thymidine phosphorylase (TYMP) gene. The main objective of this study was to characterize the genetic profiles of the deceased proband’s family members (N = 4) using DNA sequencing and to determine miRNA deregulation in MNGIE using miRNA microarray profiling and bioinformatic analysis. We found that the genetic profile of the younger sister showed similar TYMP gene mutations as that of the proband with the exception of a heterozygous mutation in exon 10. The miRNA microarray revealed 55 significantly up-regulated and 65 significantly down-regulated miRNAs. These miRNAs have been implicated in various mitochondrial dynamics such as energy metabolism, Krebs cycle, mitochondria-associated apoptosis, and mitophagy. In conclusion, we demonstrate that blood miRNAs are deregulated in the pathogenesis of MNGIE and these changes may have therapeutic implications. Further experimental studies will be required to elucidate the functional miRNA-mRNA interactions in MNGIE. Fundacao de Pesquisas Cientificas de Ribeirao Preto 2015 Article PeerReviewed Yong, F.L. and Wang, C.W. and Tan, K.S. (2015) MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy. Genetics and Molecular Research, 14 (4). pp. 13172-13183. ISSN 1676-5680, DOI https://doi.org/10.4238/2015.October.26.13 <https://doi.org/10.4238/2015.October.26.13>. http://dx.doi.org/10.4238/2015.October.26.13 doi:10.4238/2015.October.26.13 |
| spellingShingle | R Medicine Yong, F.L. Wang, C.W. Tan, K.S. MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy |
| title | MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy |
| title_full | MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy |
| title_fullStr | MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy |
| title_full_unstemmed | MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy |
| title_short | MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy |
| title_sort | microrna expression profile of a malaysian bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy |
| topic | R Medicine |
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