Background Voltage-dependent anion selective channels (VDACs) are the most abundant mitochondrial outer
membrane proteins, encoded in mammals by three genes, VDAC1, 2 and 3, mostly ubiquitously expressed. As ’mitochondrial
gatekeepers’, VDACs control organelle and cell metabolism and are involved in many diseases. Despite
the presence of numerous VDAC pseudogenes in the human genome, their significance and possible role in VDAC
protein expression has not yet been considered.
Results We investigated the relevance of processed pseudogenes of human VDAC genes, both in physiological and
in pathological contexts. Using high-throughput tools and querying many genomic and transcriptomic databases,
we show that some VDAC pseudogenes are transcribed in specific tissues and pathological contexts. The obtained
experimental data confirm an association of the VDAC1P8 pseudogene with acute myeloid leukemia (AML).
Conclusions Our in-silico comparative analysis between the VDAC1 gene and its VDAC1P8 pseudogene, together
with experimental data produced in AML cellular models, indicate a specific over-expression of the VDAC1P8 pseudogene
in AML, correlated with a downregulation of the parental VDAC1 gene.
Keywords Pseudogene, Voltage-dependent anion selective channels (VDAC