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Global transcriptome analysis of peripheral blood identifies the most significantly down‐regulated genes associated with metabolism regulation in Klinefelter syndrome
Author(s) -
Huang Jin,
Zhang Liang,
Deng Hua,
Chang Liang,
Liu Qinli,
Liu Ping
Publication year - 2015
Publication title -
molecular reproduction and development
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.745
H-Index - 105
eISSN - 1098-2795
pISSN - 1040-452X
DOI - 10.1002/mrd.22438
Subject(s) - biology , gene , transcriptome , pathogenesis , microarray analysis techniques , genetics , gene expression , microarray , fold change , regulation of gene expression , gene expression profiling , aldehyde dehydrogenase , immunology
SUMMARY The molecular pathogenesis of Klinefelter Syndrome (KS) is not fully understood. The aim of this study was to determine differences in gene expression patterns between KS patients and control individuals to help identify disease‐related genes and biological pathways. Gene expression profiles of five KS patients and five healthy men were determined by microarray; 21 differentially expressed genes with a fold‐change >1.5 and q‐value <0.05 were identified between the groups. Genes associated with metabolism regulation and encoding liver fatty acid‐binding protein (FABP1), aldehyde dehydrogenase 1 family member L1 (ALDH1L1), and vitronectin (VTN) were the most‐significantly down‐regulated in KS, as confirmed by quantitative reverse transcription PCR. Notably, none of these differentially expressed genes are normally found on the X chromosome. Thus, our results indicate that aberrant metabolism is involved in the pathogenesis of KS. Further elucidation of the how aberrant expression of metabolism‐related genes affect the pathogenesis of KS may lead to the development of novel preventative and therapeutic strategies. Mol. Reprod. Dev. 82: 17–25, 2015. © 2014 Wiley Periodicals, Inc .