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.