Peyronie's and chromosomal abnormalities

In my prior post I reviewed the OMIM entry on Peyronie's. That entry cited a 1987 and a 1991 (yeah, research is slow in this domain) article on chromosomal anomalies in the abnormal plaque tissue of the tunica albuginea found in Peyronie's disease.

These articles make the plaques seem more like a tumor than a conventional scar. Pubmed lets one query for "related articles" on a given topic, here's what that query looks like:

• Multiple clonal chromosome abnormalities in Peyronie's disease - 1991

One of the articles that turned up was interesting, emphases mine:

Mulhall JP et al. Chromosomal instability is de...[PMID: 14961053]

... Peyronie's disease is a fibrotic disorder, a condition characterized by cellular proliferation and excess extracellular matrix production. Previous work in related conditions has demonstrated chromosomal instability. This investigation was undertaken to analyze fibroblasts derived from Peyronie's disease tunical tissue for abnormalities of chromosome number and progression of cytogenetic aberrations during cell culture...

... Peyronie's disease plaque-derived fibroblasts demonstrated frequent aneusomies in chromosomes 7, 8, 17, 18 and X and recurrent deletions of chromosome Y. Peyronie's disease nonplaque tunica-derived fibroblasts demonstrated infrequent chromosomal changes early in culture; however, with repeated passaging the majority of cell cultures demonstrated aneusomies [ed: extra copies] in at least one chromosome. These data indicate that Peyronie's disease plaque-derived fibroblasts have consistent aneusomies even at early passage and that nonplaque tunica-derived cells from men with Peyronie's disease also demonstrate chromosomal instability. This suggests that the tunica albuginea of men with Peyronie's disease may be predisposed to undergoing unregulated fibrosis. These findings confirm the transformed nature of the Peyronie's disease tunical fibroblasts studied in this analysis. While the etiology of these findings is not clear, it is likely that these pathobiological characteristics contribute to the pathophysiology of this disease process.

In other words men who develop Peyronie's Disease have something wrong with all the cells of their "tunica albuginea", not only those involved in Peyronie's. Of course this implies there's something wrong with at least those cells everywhere in the body.

In particular the cells are prone to a crazed kind of fibrosis (tough fiber generation) instead of a reasoned, measured, sort of fibrotic reaction.

It would be interesting to know what other conditions this presumably genetic defect may predispose to -- besides Dupuytren's contracture.

From a science point of view, this study tells us something fairly interesting. There's very little active research in Peyronie's, but it's studied using tools that are developed for other, actively studied, domains. A competent researcher can simply repeat a study from 10 years ago, and by virtue of better tools new knowledge will emerge.