Full name: Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2 Pseudogene 9

Gene type: Pseudogene

Related gene: CHCHD2 (a protein-coding gene involved in mitochondrial function, apoptosis regulation, and oxidative phosphorylation)

Function: As a pseudogene, CHCHD2P9 is a non-functional genomic sequence that resembles the CHCHD2 gene but typically lacks the ability to produce a functional protein.

Location: Human genome, specific locus may vary by reference genome assembly.

While pseudogenes were traditionally considered “junk DNA”, growing evidence suggests some may have regulatory roles through:

Transcriptional interference

miRNA sponging

Epigenetic regulation

In a translational research integrating single-cell RNA sequencing, flow cytometry, and in vitro functional assays. Ding et al. from the Anhui Medical University, Hefei; Shanghai Ninth People's Hospital, Shanghai; University of Science and Technology of China, Hefei. published in Frontiers in Immunology to elucidate the role of the pseudogene CHCHD2P9 in glioblastoma progression and tumor heterogeneity by leveraging single-cell RNA sequencing and functional assays. CHCHD2P9 is overexpressed in glioma and correlates with worse prognosis. It may influence glioma proliferation and migration and serve as a novel prognostic biomarker or therapeutic target ¹⁾.

Critical Review: This study attempts a multidimensional exploration of glioblastoma heterogeneity by integrating advanced single-cell transcriptomics with basic cellular assays. The identification of CHCHD2P9 as a putative prognostic marker is intriguing, but the study lacks depth in mechanistic validation. While the correlation between CHCHD2P9 expression and clinical outcome is statistically supported, causality remains speculative. The study’s reliance on a pseudogene raises biological plausibility concerns, especially without sufficient evidence for its protein-coding function or epigenetic regulation. The model’s translational utility is also not directly tested in patient-derived xenografts or organoids. The work is hypothesis-generating rather than definitive, with significant promise for future mechanistic follow-up.

Final Verdict: Interesting early-phase study with a novel target but insufficient mechanistic or in vivo validation.

Takeaway for the Practicing Neurosurgeon: CHCHD2P9 may emerge as a biomarker of glioblastoma prognosis, but clinical application is premature. No impact on current neurosurgical management.

Bottom Line: A promising transcriptomic marker in glioblastoma subpopulations, but further functional studies are essential.

Rating: 5/10

Publication Date: June 24, 2025 Corresponding Author Email: jiyuanke@ahmu.edu.cn