Pdgfrb, short for platelet-derived growth factor receptor-beta, is a gene encoding a receptor that plays crucial roles in multiple biological processes. The receptor is involved in pathways regulating cell growth, differentiation, and migration. It is expressed in various cell types such as neurons, vascular smooth muscle cells, and pericytes, highlighting its importance in neural, vascular, and other physiological functions [4].

Mutations in Pdgfrb have been linked to several diseases. In intracranial aneurysms, somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation. Whole-exome sequencing detected PDGFRB somatic mutations in four out of six fusiform intracranial aneurysms, and experiments on mutant smooth muscle cell lines and zebrafish models showed that PDGFRBY562D mutations promoted an inflammatory-related vascular smooth muscle cell phenotype, with the JAK-STAT pathway being crucial. Ruxolitinib, a JAK inhibitor, could reverse the phenotype modulation in vitro and inhibit vascular anomalies in zebrafish induced by PDGFRB mutation [1]. PDGFRB mutations were also detected in a wide range of pericytic tumors, including myopericytomas, angioleiomyomas, glomus tumors, and their combined tumors, but these mutations may not be useful for subclassifying these tumors [2]. In a myeloid neoplasm case, a PCM1-PDGFRB fusion was identified, and the patient achieved complete molecular remission after low-dose imatinib treatment [3]. A novel PDGFRB sequence variant was found in a family with a mild form of primary familial brain calcification, suggesting that PDGFRB mutation carriers generally have a mild clinical phenotype [4]. In a rat model of retinal ischemia-reperfusion, upregulation of PDGFRB contributed to retinal damages, and silencing PDGFRB or using a PDGFR inhibitor alleviated the detrimental effects [5].

In conclusion, Pdgfrb is essential for normal cell growth, differentiation, and migration. Studies using various models, such as zebrafish and cell lines, have revealed its role in diseases like intracranial aneurysms, pericytic tumors, myeloid neoplasms, primary familial brain calcification, and retinal ischemia-reperfusion injuries. Understanding Pdgfrb's function provides insights into the molecular mechanisms of these diseases and potential therapeutic targets.

References:

1. Hao, Li, Ya, Xiaolong, Wu, Jiaye, Lin, Qing, Zhao, Jizong. 2024. Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm. In Journal of biomedical science, 31, 51. doi:10.1186/s12929-024-01040-7. https://pubmed.ncbi.nlm.nih.gov/38741091/

2. Iwamura, Ryuji, Komatsu, Kazuki, Kusano, Midori, Itami, Hiroe, Hisaoka, Masanori. 2023. PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors. In Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 36, 100070. doi:10.1016/j.modpat.2022.100070. https://pubmed.ncbi.nlm.nih.gov/36788105/

3. Wang, Zhe, Wan, Li, Lin, Dong, Tian, Zheng, Mi, Ying-Chang. 2022. Myeloid Neoplasm with PCM1-PDGFRB Transcript Responded to Low-Dose Imatinib: One Case Report with Literature Review. In Acta haematologica, 145, 560-565. doi:10.1159/000524275. https://pubmed.ncbi.nlm.nih.gov/35340014/

4. Mathorne, Stine Westergaard, Sørensen, Kristina, Fagerberg, Christina, Bode, Matthias, Hertz, Jens Michael. 2019. A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature. In BMC neurology, 19, 60. doi:10.1186/s12883-019-1292-8. https://pubmed.ncbi.nlm.nih.gov/30979360/

5. Li, Juanjuan, Chen, Chen, Zhang, Liwei, Ren, Yuling, Li, Hua. 2023. PDGFRB upregulation contributes to retinal damages in the rat model of retinal ischemia-reperfusion. In Biochemical and biophysical research communications, 663, 113-121. doi:10.1016/j.bbrc.2023.03.085. https://pubmed.ncbi.nlm.nih.gov/37121121/