Cover Image

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Yong, F.L., Wang, C.W., Tan, K.S.
Format: Article
Published: Fundacao de Pesquisas Cientificas de Ribeirao Preto 2015
Subjects:
R Medicine
Online Access:http://eprints.um.edu.my/19359/
http://dx.doi.org/10.4238/2015.October.26.13
Tags: Add Tag
No Tags, Be the first to tag this record!
id my.um.eprints.19359
record_format eprints
spelling my.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 http://dx.doi.org/10.4238/2015.October.26.13 doi:10.4238/2015.October.26.13
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
topic R Medicine
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
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.
format Article
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.
title 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_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_sort microrna expression profile of a malaysian bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy
publisher Fundacao de Pesquisas Cientificas de Ribeirao Preto
publishDate 2015
url http://eprints.um.edu.my/19359/
http://dx.doi.org/10.4238/2015.October.26.13
_version_ 1643690964493008896
score 13.211869

Similar Items