2. Academic Validation
  3. Synergistic blood-based diagnostic value of AP3B1 and BMPR2 in Parkinson's disease

Synergistic blood-based diagnostic value of AP3B1 and BMPR2 in Parkinson's disease

  • NPJ Parkinsons Dis. 2025 Oct 28;11(1):310. doi: 10.1038/s41531-025-01134-5.
Xiyan Zhao # 1,  Li Yang # 1,  Yumin Luan 2,  Tao Ding 2,  Xinglong Yang 3,  Xin Geng 3,  Tuo Zhang 4,  Jigang Pan 4,  Ziwen Xiao 5 6,  Wei Pan 7 8,  Tengxiang Chen 9 10
Affiliations

Affiliations

  • 1 Guizhou Institute of Precision Medicine, The Affiliated Hospital of Guizhou Medical University, Guiyang, China.
  • 2 Department of Rehabilitation, First Affiliated Hospital of Kunming Medical University, Kunming, China.
  • 3 Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming, China.
  • 4 Guizhou Provincial Key Laboratory of Pathogenesis & Drug Research on Common Chronic Diseases, Guizhou Medical University, Guiyang, China.
  • 5 Guizhou Institute of Precision Medicine, The Affiliated Hospital of Guizhou Medical University, Guiyang, China. xzwe@hotmail.com.
  • 6 Department of Obstetrics and Gynecology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China. xzwe@hotmail.com.
  • 7 Guizhou Institute of Precision Medicine, The Affiliated Hospital of Guizhou Medical University, Guiyang, China. 313831139@qq.com.
  • 8 Department of Obstetrics and Gynecology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China. 313831139@qq.com.
  • 9 Guizhou Institute of Precision Medicine, The Affiliated Hospital of Guizhou Medical University, Guiyang, China. txch@gmc.edu.cn.
  • 10 Guizhou Provincial Key Laboratory of Pathogenesis & Drug Research on Common Chronic Diseases, Guizhou Medical University, Guiyang, China. txch@gmc.edu.cn.
  • # Contributed equally.
PMID: 41152257 DOI: 10.1038/s41531-025-01134-5
Abstract

Reliable blood-based biomarkers for Parkinson's disease (PD) are needed for minimally invasive diagnosis. We identified a synergistic mRNA biomarker pair, AP3B1 and BMPR2, detectable in blood through an integrative multi-omics workflow. DEGs from a meta-analysis of PD versus healthy controls (HCs) were intersected with DEG-enriched pathway genes and analysed via three-step SMR to identify PD risk candidates, from which machine learning (SVM-RFE and random forest) prioritized AP3B1 and BMPR2. Knockdown of each gene in SH-SY5Y-derived neurons reproduced Parkinsonian phenotypes, with protein docking and co-immunoprecipitation suggesting a direct interaction. An XGBoost model built on PPMI blood RNA-seq (n = 2585) using 25 established PD biomarkers (baseline AUC ~ 0.595) improved to 0.745 with addition of both AP3B1 and BMPR2. qRT-PCR in a cohort of clinical blood samples confirmed their downregulation in PD. These findings support AP3B1 and BMPR2 as a synergistic biomarker pair with speculative biological relevance and possible translational potential.

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