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Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia

Xena Giada Pappalardo1, Pierpaolo Risiglione1, Federica Zinghirino1

  • 1Department of Biomedical and Biotechnological Sciences, University of Catania, Via Santa Sofia 97, 95123, Catania, Italy.

Biological Research
|June 21, 2023
PubMed
Abstract

Insights

Investigating human VDAC pseudogenes revealed that some are transcribed, with VDAC1P8 specifically linked to acute myeloid leukemia (AML). This pseudogene is overexpressed in AML, while the VDAC1 gene is downregulated.

Area of Science:

  • Molecular Biology
  • Genomics
  • Cancer Research

Background:

  • Voltage-dependent anion selective channels (VDACs) are crucial mitochondrial outer membrane proteins controlling cell metabolism.
  • VDACs are implicated in various diseases, yet the role of their pseudogenes remains unexplored.
  • Human VDAC genes (VDAC1, VDAC2, VDAC3) are encoded by three genes with ubiquitous expression.

Purpose of the Study:

  • To investigate the relevance of human VDAC gene pseudogenes in physiological and pathological conditions.
  • To explore the potential role of VDAC pseudogenes in VDAC protein expression.
  • To determine the association of VDAC pseudogenes with specific diseases, particularly acute myeloid leukemia (AML).

Main Methods:

  • Utilized high-throughput tools for genomic and transcriptomic database analysis.
  • Conducted in-silico comparative analysis between VDAC1 gene and its pseudogene VDAC1P8.
  • Generated experimental data using AML cellular models.

Main Results:

  • Identified transcription of certain VDAC pseudogenes in specific tissues and pathological contexts.
  • Confirmed an association between the VDAC1P8 pseudogene and acute myeloid leukemia (AML).
  • Observed specific overexpression of the VDAC1P8 pseudogene in AML.

Conclusions:

  • VDAC pseudogenes can be transcribed and play a role in disease.
  • The VDAC1P8 pseudogene is specifically overexpressed in AML.
  • AML is associated with VDAC1P8 pseudogene overexpression and concurrent downregulation of the parental VDAC1 gene.
Keywords:
Acute myeloid leukemia (AML)Competing endogenous RNAs (ceRNAs)Disease animal modelPseudogeneVoltage-dependent anion selective channels (VDACs) gene

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