Two novel spliced presenilin 2 transcripts in human lymphocyte with oxidant stress and brain.

We identified two novel spliced human presenilin 2 (PS2) transcripts. The first, PS2deltaEx3-7, lacked part ofexon 3, all of exons 4, 5, and 6, and part of exon 7, resulting in an in-frame shift and inclusion of the natural start codon and proteolytic region. This transcript was detected in cerebral cortex and peripheral lymphocytes. The second transcript, PS2deltaEx4, lacked exon 4, resulting in a frame shift and inclusion of the natural start codon, and was transcribed in peripheral lymphocytes and heart but not in brain. Quantitative RT-PCR analysis revealed that the PS2deltaEx3-7 significantly increased in lymphocytes treated with H2O2, suggesting that this transcript is a novel genetic marker that can be used to study the pathogenesis of Alzheimer's disease.