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Profiling of differentially expressed genes in adipose tissues of multiple symmetric lipomatosis. 2017

Ke Chen, and Linghao Wang, and Wenjun Yang, and Changfa Wang, and Gui Hu, and Zhaohui Mo
Department of Endocrinology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.

Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by aberrant multiple and symmetric subcutaneous adipose tissue accumulation in the face, neck, shoulders, back, chest and abdomen, severely affecting the quality of life of patients. At present, precise MSL etiology and pathogenesis remain to be elucidated. The present study first utilized a digital gene expression technique with a next‑generation sequencing platform to profile differentially expressed genes in three cases of MSL vs. normal control tissue. cDNA libraries from these tissue specimens were constructed and DNA sequenced for identification of differentially expressed genes, which underwent bioinformatic analysis using the Gene Ontology (GO) enrichment, Kyoto Encyclopedia of Genes and Genomes (KEGG) and protein‑protein interaction (PPI) network analyses. As a result, a total of 859 differentially expressed genes were identified, including 308 upregulated genes (C19orf80, Apelin, C21orf33, FAM166B and HSD11B2 were mostly upregulated 6.984‑, 4.670‑, 4.412‑, 3.693‑ and 3.561‑fold, respectively) and 551 downregulated genes [FosB proto‑oncogene, AP‑1 transcription factor subunit (FOSB), selectin (SEL) E, RAR related orphan receptor (ROR) B, salt inducible kinase (SIK)1 and epidermal growth factor‑like protein (EGFL)6 were mostly downregulated ‑9.845, ‑8.243, ‑8.123, ‑7.702 and ‑7.664 fold, respectively). The GO functional enrichment analysis demonstrated these differentially expressed genes were predominantly involved in biological processes and cellular components, while the KEGG pathway enrichment analysis demonstrated that ribosome, non‑alcoholic fatty liver disease, human T‑lymphotropic virus type 1 (HTLV‑I) infection and Alzheimer's disease pathways were altered in MSL. The PPI network data demonstrated ubiquitin C (UBC), translocator protein (TSPO), Jun Proto‑Oncogene, AP‑1 Transcription Factor (JUN) and FOS were among these differentially expressed genes that participated in regulation of adipocyte differentiation, although no previous study has linked them to MSL. In conclusion, the present study profiled differentially expressed genes in MSL and identified gene pathways that may be associated with MSL development and progression.

UI MeSH Term Description Entries
D008069 Lipomatosis, Multiple Symmetrical A condition characterized by the growth of unencapsulated masses of ADIPOSE TISSUE symmetrically deposited around the neck, shoulders, or other sites around the body. Benign Symmetrical Lipomatosis,Launois-Bensaude Syndrome,Madelung Disease,Lipodystrophy, Cephalothoracic,Lipomatosis Familial Benign Cervical,Lipomatosis, Familial Benign Cervical,Lipomatosis, Multiple Symmetric,Lipomatosis, Nodular Circumscribed,Madelung Neck,Madelung's Disease,Madelung's Neck,Multiple Symmetrical Lipomatosis,Nodular Circumscribed Lipomatosis,Benign Symmetrical Lipomatoses,Cephalothoracic Lipodystrophies,Cephalothoracic Lipodystrophy,Circumscribed Lipomatoses, Nodular,Circumscribed Lipomatosis, Nodular,Disease, Madelung,Disease, Madelung's,Launois Bensaude Syndrome,Lipodystrophies, Cephalothoracic,Lipomatoses, Multiple Symmetric,Lipomatoses, Nodular Circumscribed,Lipomatosis, Benign Symmetrical,Madelungs Disease,Madelungs Neck,Multiple Symmetric Lipomatoses,Multiple Symmetric Lipomatosis,Multiple Symmetrical Lipomatoses,Nodular Circumscribed Lipomatoses,Symmetric Lipomatoses, Multiple,Symmetric Lipomatosis, Multiple,Symmetrical Lipomatoses, Multiple,Symmetrical Lipomatosis, Benign,Symmetrical Lipomatosis, Multiple
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D002454 Cell Differentiation Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs. Differentiation, Cell,Cell Differentiations,Differentiations, Cell
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000273 Adipose Tissue Specialized connective tissue composed of fat cells (ADIPOCYTES). It is the site of stored FATS, usually in the form of TRIGLYCERIDES. In mammals, there are two types of adipose tissue, the WHITE FAT and the BROWN FAT. Their relative distributions vary in different species with most adipose tissue being white. Fatty Tissue,Body Fat,Fat Pad,Fat Pads,Pad, Fat,Pads, Fat,Tissue, Adipose,Tissue, Fatty
D015536 Down-Regulation A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. Receptor Down-Regulation,Down-Regulation (Physiology),Downregulation,Down Regulation,Down-Regulation, Receptor
D015723 Gene Library A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences. DNA Library,cDNA Library,DNA Libraries,Gene Libraries,Libraries, DNA,Libraries, Gene,Libraries, cDNA,Library, DNA,Library, Gene,Library, cDNA,cDNA Libraries
D015854 Up-Regulation A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. Receptor Up-Regulation,Upregulation,Up-Regulation (Physiology),Up Regulation
D016758 Genes, jun Retrovirus-associated DNA sequences (jun) originally isolated from the avian sarcoma virus 17 (ASV 17). The proto-oncogene jun (c-jun) codes for a nuclear protein which is involved in growth-related transcriptional control. Insertion of c-jun into ASV-17 or the constitutive expression of the c-jun protein produces tumorgenicity. The human c-jun gene is located at 1p31-32 on the short arm of chromosome 1. c-jun Genes,jun Genes,v-jun Genes,c-jun Proto-Oncogenes,jun Oncogene,jun Proto-Oncogene,v-jun Oncogenes,Oncogene, jun,Oncogenes, jun,Proto-Oncogene, jun,Proto-Oncogenes, jun,c jun Genes,c jun Proto Oncogenes,c-jun Gene,c-jun Proto-Oncogene,jun Gene,jun Oncogenes,jun Proto Oncogene,jun Proto-Oncogenes,v jun Genes,v jun Oncogenes,v-jun Gene,v-jun Oncogene

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