Nakagawa Makoto, Shimada Eijiro, Guardino Nicholas, Miyamoto Ryo, Puviindran Vijitha, Peairs Emily, Matarangas Ariana, Ishikawa Koji, Nguyen Tuyet, Browne Makenna, Marius Choiselle, Wallace Asjah, Hirata Makoto, Nadesan Puviindran, Alman Benjamin A
Department of Orthopaedic Surgery, Duke University, Durham, NC 27710.
Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
Proc Natl Acad Sci U S A. 2025 Apr 22;122(16):e2501519122. doi: 10.1073/pnas.2501519122. Epub 2025 Apr 15.
Enchondromas are common bone tumors composed of chondrocytes originating from growth plate cells which can progress to malignant chondrosarcoma. Mutations in the genes encoding isocitrate dehydrogenase (IDH1 and IDH2) are identified in a large proportion of these tumors. IDH enzymes convert isocitrate to alpha-ketoglutarate (α-KG), an essential component of the citric acid cycle. While mutant IDH enzymes produce 2-hydroxyglutarate, which has epigenetic effects important in tumor initiation, cell maintenance and growth rely on additional factors. Prior work shows that intracellular cholesterol and glycogen are upregulated in mutant IDH chondrocytes. Here, we show that Protein Phosphatase 1 Regulatory Subunit 3C (PPP1R3C, previously termed Protein Targeting to Glycogen or PTG) is highly expressed in chondrocytes harboring a mutant IDH. Furthermore, Sterol Regulatory Element-Binding Proteins (SREBPs), transcriptional regulators of sterol biosynthesis, regulate PPP1R3C expression. We found that PPP1R3C regulates glycolysis and glycolytic capacity in chondrocytes. Depletion of PPP1R3C in mouse chondrocytes in vivo suppresses the neoplastic phenotype. The growth plate phenotype associated with the genetic inhibition of cholesterol biosynthesis is partially rescued by PPP1R3C overexpression. Taken together, our data show that PPP1R3C integrates cholesterol metabolism and isocitrate dehydrogenase in growth plate and neoplastic chondrocyte metabolism by regulating intracellular glycogen levels.
内生软骨瘤是常见的骨肿瘤,由源自生长板细胞的软骨细胞组成,可进展为恶性软骨肉瘤。在这些肿瘤的很大一部分中发现了编码异柠檬酸脱氢酶(IDH1和IDH2)的基因突变。IDH酶将异柠檬酸转化为α-酮戊二酸(α-KG),这是柠檬酸循环的重要组成部分。虽然突变的IDH酶会产生2-羟基戊二酸,其在肿瘤起始中具有重要的表观遗传作用,但细胞维持和生长还依赖于其他因素。先前的研究表明,突变IDH软骨细胞中的细胞内胆固醇和糖原上调。在此,我们表明蛋白磷酸酶1调节亚基3C(PPP1R3C,以前称为糖原靶向蛋白或PTG)在携带突变IDH的软骨细胞中高度表达。此外,固醇调节元件结合蛋白(SREBPs)作为固醇生物合成的转录调节因子,可调节PPP1R3C的表达。我们发现PPP1R3C调节软骨细胞中的糖酵解和糖酵解能力。体内小鼠软骨细胞中PPP1R3C的缺失可抑制肿瘤表型。PPP1R3C的过表达可部分挽救与胆固醇生物合成基因抑制相关的生长板表型。综上所述,我们的数据表明,PPP1R3C通过调节细胞内糖原水平,整合了生长板和肿瘤性软骨细胞代谢中的胆固醇代谢和异柠檬酸脱氢酶。