title: Global transcriptome analysis of peripheral blood identifies the most significantly down-regulated genes associated with metabolism regulation in Klinefelter syndrome.
abstract: 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.
authors.affiliation: Center of Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China; Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing, China; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction, Beijing, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Huang
authors.forename: Liang
authors.initials: L
authors.lastname: Zhang
authors.forename: Hua
authors.initials: H
authors.lastname: Deng
authors.forename: Liang
authors.initials: L
authors.lastname: Chang
authors.forename: Qinli
authors.initials: Q
authors.lastname: Liu
authors.forename: Ping
authors.initials: P
authors.lastname: Liu
mesh_terms: D000328:Adult; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D007962:Leukocytes / Q000378:metabolism* / Q000473:pathology; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D059467:Transcriptome
keywords: Differentially expressed genes; Gene expression profiles; Klinefelter syndrome; Metabolism