| Autor: |
Yong FL; Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Wang CW; Department of Biochemistry, Faculty of Medicine, MAHSA University, Kuala Lumpur, Malaysia., Tan KS; Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. |
| Jazyk: |
angličtina |
| Zdroj: |
Genetics and molecular research : GMR [Genet Mol Res] 2015 Oct 27; Vol. 14 (4), pp. 13172-83. Date of Electronic Publication: 2015 Oct 27. |
| DOI: |
10.4238/2015.October.26.13 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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