At least 50 different mutations in the presenilin 1 gene have been shown to
cause early onset familial Alzheimer's disease. Although presenilin 1 has
an obvious role in the pathogenesis of Alzheimer's disease, its function is
still unknown. In the present study, the occurrence and distribution of pr
esenilin 1 mRNA was examined in rat peripheral organs as well as in the bra
in by in situ hybridization histochemistry, using a radiolabelled oligonucl
eotide probe. In comparison to the brain, a high presenilin 1 mRNA expressi
on was found in the testis, kidney, spleen, adrenal gland and thymus. It wa
s also observed in skeletal muscle, liver, small intestine and lung, wherea
s no presenilin 1 could be detected in the heart, spinal cord and pancreas.
Since presenilin 1 mRNA was found to be abundant in peripheral tissues whi
ch apparently are not affected in Alzheimer's disease, additional functions
of presenilin 1 are suggested, unrelated to its role in the pathological p
rocesses of the disease.