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

Abstract

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.

Madelung’s disease – progressive, excessive, and symmetrical deposition of adipose tissue in the subcutaneous layer: case report and literature review

“…Madelung’s disease is also known as multiple symmetric lipomatosis (MSL), benign symmetric lipomatosis (BSL), and Launois-Bensaude syndrome. 1 – 3 It is a rare disorder characterized by progressive, excessive, and symmetrical accumulation of adipose tissue in the subcutaneous layer, thus giving patients a peculiar appearance. 1 , 2 , 4 , 5 Enzi 6 distinguishes two types of lipomatosis ( Figure 1 ).…”

“…It is a generalized motor, sensory, and autonomic neuropathy not directly related to the location of fat mass. 1 , 2 , 5 , 11 Another indirect consequence of the disease is the occurrence of depressive disorders in patients, resulting from the way they perceive themselves against the background of emerging changes in appearance. 7 …”

“…Madelung’s disease affects men more often – the ratio of men to women varies from 15/1 to 30/1 – and is usually diagnosed between 30 and 70 years of age. 1 , 4 , 12 – 14 Most cases of the disease are reported in the Mediterranean region – the incidence in Italy has been reported to be as high as 1 in 25,000 men. 1 , 4 , 5 , 9 , 15 In contrast, in the Asian population, this disease is extremely rare.…”

“… 1 , 4 , 12 – 14 Most cases of the disease are reported in the Mediterranean region – the incidence in Italy has been reported to be as high as 1 in 25,000 men. 1 , 4 , 5 , 9 , 15 In contrast, in the Asian population, this disease is extremely rare. 1 , 9 In the majority of cases, the disease is diagnosed in men in the 4th and 5th decades of life who consume chronically increased amounts of alcohol, especially in the form of red wine.…”

“… 1 , 4 , 5 , 9 , 15 In contrast, in the Asian population, this disease is extremely rare. 1 , 9 In the majority of cases, the disease is diagnosed in men in the 4th and 5th decades of life who consume chronically increased amounts of alcohol, especially in the form of red wine. 5 , 10 , 16 Moreover, 90% of patients also have secondary liver cirrhosis.…”