a School of Biochemistry and Cell Biology , University College Cork , Co. Cork , Ireland.
b Mater Private Hospital , Citygate, Mahon, Cork , Ireland.
Adipocyte. 2017 Oct 2;6(4):259-276. doi: 10.1080/21623945.2017.1362510. Epub 2017 Sep 5.
Dysregulation of adipose tissue metabolism is associated with multiple metabolic disorders. One such disease, known as Dunnigan-type familial partial lipodystrophy (FPLD2) is characterized by defective fat metabolism and storage. FPLD2 is caused by a specific subset of mutations in the LMNA gene. The mechanisms by which LMNA mutations lead to the adipose specific FPLD2 phenotype have yet to be determined in detail. We used RNA-Seq analysis to assess the effects of wild-type (WT) and mutant (R482W) lamin A on the expression profile of differentiating 3T3-L1 mouse preadipocytes and identified Itm2a as a gene that was upregulated at 36 h post differentiation induction in these cells. In this study we identify Itm2a as a novel modulator of adipogenesis and show that endogenous Itm2a expression is transiently downregulated during induction of 3T3-L1 differentiation. Itm2a overexpression was seen to moderately inhibit differentiation of 3T3-L1 preadipocytes while shRNA mediated knockdown of Itm2a significantly enhanced 3T3-L1 differentiation. Investigation of PPARγ levels indicate that this enhanced adipogenesis is mediated through the stabilization of the PPARγ protein at specific time points during differentiation. Finally, we demonstrate that Itm2a knockdown is sufficient to rescue the inhibitory effects of lamin A WT and R482W mutant overexpression on 3T3-L1 differentiation. This suggests that targeting of Itm2a or its related pathways, including autophagy, may have potential as a therapy for FPLD2.
脂肪组织代谢失调与多种代谢紊乱有关。一种这样的疾病,称为 Dunnigan 型家族性部分脂肪营养不良(FPLD2),其特征是脂肪代谢和储存缺陷。FPLD2 是由 LMNA 基因的特定亚组突变引起的。LMNA 突变导致脂肪特异性 FPLD2 表型的机制尚未详细确定。我们使用 RNA-Seq 分析来评估野生型(WT)和突变型(R482W) lamin A 对分化中的 3T3-L1 小鼠前脂肪细胞表达谱的影响,并确定 Itm2a 为这些细胞中分化诱导后 36 小时上调的基因。在这项研究中,我们确定 Itm2a 是脂肪生成的新调节剂,并表明内源性 Itm2a 表达在 3T3-L1 分化诱导过程中短暂下调。Itm2a 的过表达适度抑制 3T3-L1 前脂肪细胞的分化,而 shRNA 介导的 Itm2a 敲低则显著增强 3T3-L1 分化。对 PPARγ 水平的研究表明,这种增强的脂肪生成是通过在分化过程中的特定时间点稳定 PPARγ 蛋白来介导的。最后,我们证明 Itm2a 敲低足以挽救 lamin A WT 和 R482W 突变体过表达对 3T3-L1 分化的抑制作用。这表明靶向 Itm2a 或其相关途径,包括自噬,可能是 FPLD2 的一种治疗方法。