An isoform shift in the cardiac adenine nucleotide translocase expression alters the kinetic properties of the carrier in dilated cardiomyopathy.

Background: Impaired mitochondrial ADP/ATP transport and altered adenine nucleotide translocase (ANT) isoform expression characterized by enhanced ANT1 and decreased ANT2 expression have been implicated in the pathophysiology of dilated cardiomyopathy (DCM). It is still unknown whether restricted ANT function results from exogenous factors, or mutations in the ANT genes, or whether the imbalance in the isoform composition causes the reduced ADP/ATP transport. We performed DNA mutation screening of ANT genes and analyzed the kinetic properties of ANT protein isolated from DCM hearts and controls in a reconstituted system excluding natural environmental influences.

Transcription of the adenine nucleotide translocase isoforms in various types of tissues in the rat.

Two different isoforms of the adenine nucleotide translocase (ANT1 and ANT2) have been identified in the rat. In order to obtain enhanced knowledge of the ANT isoform expression, we analyzed the transcription pattern of both isoforms and their mRNA levels in various tissues of the rat using the PCR technique. A predominant ANT1 mRNA percentage was recorded in the skeletal muscle, heart and brain, ranging from 81 to 58%.

Tissue-specific transcription pattern of the adenine nucleotide translocase isoforms in humans.

Three adenine nucleotide translocase isoforms (ANT1, ANT2 and ANT3) are coded by different genes. The relative amounts of the three ANT isoform mRNAs were determined in detail in various human tissues. ANT isoforms were co-expressed in all tested tissues revealing tissue-specific transcription patterns.