具有新PPARG移码突变c.418dup的家族局部性脂质营养不良3型家族中循环外泌体circRNA-miRNA-mRNA网络

核心信息

• 论文英文标题: Circulating exosomal circRNA-miRNA-mRNA network in a familial partial lipodystrophy type 3 family with a novel PPARG frameshift mutation c.418dup
• 期刊: Am J Physiol Endocrinol Metab
• 发表年份: 2024
• DOI: 10.1152/ajpendo.00094.2024
• PMID/PMCID: 39017680

研究概览

Among the circRNA-miRNA-mRNA network, we identified two critical regulators, early growth response-1 (EGR1), a key transcription factor known for its role in insulin signaling pathways and lipid metabolism, and 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), which gets involved in the biosynthesis of triglycerides and lipolysis. Current findings expand our molecular understanding of adipose tissue dysfunction, providing potential blood biomarkers and therapeutic avenues for lipodystrophy and associated metabolic complications.

核心发现

Familial partial lipodystrophy 3 (FPLD3) is a rare genetic disorder caused by loss-of-function mutations in the PPARG gene, characterized by a selective absence of subcutaneous fat and associated metabolic complications.

However, the molecular mechanisms of FPLD3 remain unclear.

R140Kfs*7) that truncates the PPARγ protein at the seventh amino acid, significantly expanding the genetic landscape of FPLD3.

By performing next-generation sequencing of circular RNAs (circRNAs), microRNAs (miRNAs), and mRNAs in plasma exosomes, we discovered 59 circRNAs, 57 miRNAs, and 299 mRNAs were significantly altered in the mutation carriers compared with the healthy controls.

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血浆外泌体分离鉴定&全转录组测序分析

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参考文献

原始论文: Circulating exosomal circRNA-miRNA-mRNA network in a familial partial lipodystrophy type 3 family with a novel PPARG frameshift mutation c.418dup American journal of physiology-Endocrinology and metabolism. 2024. DOI: 10.1152/ajpendo.00094.2024. PMID/PMCID: 39017680.