Department of Endocrinology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
Department of General Surgery, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
Mol Med Rep. 2017 Nov;16(5):6570-6579. doi: 10.3892/mmr.2017.7437. Epub 2017 Sep 7.
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.
多发性对称性脂肪增多症（MSL）是一种罕见的疾病，其特征是面部、颈部、肩部、背部、胸部和腹部异常的多发性对称性皮下脂肪组织堆积，严重影响患者的生活质量。目前，MSL 的精确病因和发病机制仍有待阐明。本研究首次利用下一代测序平台的数字基因表达技术，对 3 例 MSL 与正常对照组织中的差异表达基因进行了分析。对这些组织标本的 cDNA 文库进行构建并进行 DNA 测序，以鉴定差异表达基因，然后使用基因本体论（GO）富集、京都基因与基因组百科全书（KEGG）和蛋白质-蛋白质相互作用（PPI）网络分析进行生物信息学分析。结果显示，共鉴定出 859 个差异表达基因，其中 308 个上调基因（C19orf80、Apelin、C21orf33、FAM166B 和 HSD11B2 上调倍数分别为 6.984、4.670、4.412、3.693 和 3.561 倍）和 551 个下调基因[FosB 原癌基因、AP-1 转录因子亚基（FOSB）、选择素（SEL）E、RAR 相关孤儿受体（ROR）B、盐诱导激酶（SIK）1 和表皮生长因子样蛋白（EGFL）6 下调倍数分别为-9.845、-8.243、-8.123、-7.702 和-7.664 倍]。GO 功能富集分析表明，这些差异表达基因主要参与生物学过程和细胞组成，KEGG 通路富集分析表明，核糖体、非酒精性脂肪性肝病、人类 T 淋巴细胞病毒 1（HTLV-1）感染和阿尔茨海默病途径在 MSL 中发生改变。PPI 网络数据表明，泛素 C（UBC）、转位蛋白（TSPO）、Jun 原癌基因、AP-1 转录因子（JUN）和 FOS 是这些差异表达基因中的一部分，它们参与了脂肪细胞分化的调节，尽管以前的研究没有将它们与 MSL 联系起来。总之，本研究对 MSL 中的差异表达基因进行了分析，并确定了可能与 MSL 发展和进展相关的基因途径。
