Microsatellite alterations and loss of heterozygosity in Peyronie's disease

Purpose: In the present study, we tested the hypothesis that microsatellite alterations (MSI) and loss of heterozygosity (LOH) are associated with Pey ronie's disease. To test; this hypothesis, we analyzed samples from patient s with Peyronie's for MSI and LON on chromosomes 3, 8 and 9 using 20 differ ent genetic markers. Materials and Methods: DNA was isolated from the penile fibrotic plaque, am plified using PCR, and analyzed for MSI and LOH on chromosomes 3, 8 and 9 u sing 20 different polymorphic markers (D3S1228, D3S1298, D3S1560, D3S1745, D3S2396, D3S647, D8S133, D8S255, D8S259, D8S260, D8S262, D8S285, D8S298, D8 S507, D8S528, D9S162, D9S171, D9S1747, D9S1748, and D9S273). Only 10 primer s (D3S1560, D3S647, D3S1298, D8S262, D8S260, D8S528, D9S171, D9S1747, D9S27 3 and D9S1748) showed MSI and LOH in Peyronie's samples. Microsatellite alt erations and LOH were analyzed by a PCR-based technique developed in our la boratory. Results: This study demonstrates a high frequency of MSI and LOH in Peyroni e's disease. Fourteen of 35 cases (40%) showed MSI at a minimum of one locu s, 6 of 35 cases (17%) at a minimum of 2 loci and three of 35 (8.5%) cases at three or more loci. D9S273 locus showed highest MSI when compared with o ther loci examined in this study. For LOH, 14 of 35 cases (40%) were observ ed at a minimum of one locus,5 of 35 cases (14%) at minimum of two loci and one out of 35 cases (2.8%) showed LOH at three ar more loci. The D3S1560 a nd D9S171 loci showed highest LOH when compared with all other loci examine d in this study. Conclusion: This is the first report demonstrating that a high frequency of MSI and LOH is associated with Peyronie's disease, suggesting their role i n the pathogenesis of this disease.