Circulating exosomal circRNA-miRNA-mRNA network in a familial partial lipodystrophy type 3 family with a novel PPARG frameshift mutation c.418dup

Quick Facts

  • Publication title: Circulating exosomal circRNA-miRNA-mRNA network in a familial partial lipodystrophy type 3 family with a novel PPARG frameshift mutation c.418dup
  • Journal: Am J Physiol Endocrinol Metab
  • Year: 2024
  • DOI: 10.1152/ajpendo.00094.2024
  • PMID/PMCID: 39017680

Research overview

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.

Key findings

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.

Echo Biotech Role

Echo Biotech contributed EV isolation and purification, EV characterization, whole-transcriptome sequencing; the study also used or cited Exosupur®.

Related platforms: Exoomics®, Research Reagents & Tools

Related services and capabilities: Biofluid EV Isolation & Purification, EV Basic Characterization (TEM/NTA/WB), EV Whole-Transcriptome Sequencing, Research Reagent / Product Supply

Related products or reagents: Exosupur® EV Isolation/Purification Kit

References

Original publication: 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.