Page 90 - Remedial Andrology

is still the most widely accepted hypothesis to explain the aetiology [979]. Abnormal wound healing leads to
the remodelling of connective tissue into a fibrotic plaque [979-981]. Penile plaque formation can result in a
curvature, which, if severe, may impair penetrative sexual intercourse. The genetic underpinnings of fibrotic
diatheses, including PD and Dupuytren’s disease, are beginning to be understood, although much of the data
are contradictory and we do not yet have the basis for predicting who will develop the disease or disease
severity (Table 25) [982, 983].

Table 25: Genes with involvement in Peyronie’s and Dupuytren’s diseases (adapted from Herati et al.
[982])

Gene Gene Symbol Chromosomal Gene Function
Location
Matrix metalloproteinase 2 MMP 2 16q12.2 Breakdown of extracellular matrix
Matrix metalloproteinase 9 MMP 9 20q13.12 Breakdown of extracellular matrix
Thymosin beta-10 TMSB-10 2p11.2 Prevents spontaneous globular actin
monomer polymerisation
Thymosin beta-4 TMSB-4 Xq21.3-q22 Actin sequestering protein
Cortactin; amplaxin CTTN 11q13 Organises cytoskeleton and cell
adhesion structures
Transforming protein RhoA H12 RHOA 3p21.3 Regulates cytoskeletal dynamics
RhoGDP dissociation inhibitor ARHGDIA 17q25.3 Regulates Rho GTPase signaling
Pleiotrophin precursors; osteoblast PTN/OSF-1 7q33 Stimulates mitogenic growth of
specific factor 1 fibroblasts and osteoblasts
Amyloid A4 protein precursor; PN-II 21q21.3 Cell surface receptor
nexin II
Defender against cell death 1 DAD1 14q11.2 Prevents apoptosis
Heat Shock 27-kDa protein HSP27 7q11.23 Actin organisation and translocation
(HSP27) from cytoplasm to nucleus upon
Macrophage-specific stimulating MCSF/CSF1 1p13.3 Controls the production,
factor differentiation and function of
macrophages
Transcription factor AP-1 AP1 1p32-p31 Key mediator of macrophage
education and point of recruitment
for immunosuppressive regulatory
T cells
Human Early growth response hEGR1 5q31.1 Promotes mitosis
protein 1
Monocyte chemotactic protein 1 MCP1 17q11.2-q12 Chemotactic cytokine for monocytes
and basophils
Bone Proteoglycan II precusor; DCN 12q21.33 Matrix proteoglycan
Decorin
T-Cell specific rantes protein RANTES 17q12 Chemoattractant for monocytes,
precursor memory T cells and eosinophils
Integrin Beta-1 ITGB1 10p11.2 Membrane receptor involved in
cell adhesion and recognition in
a variety of processes including
immune response, tissue repair and
haemostasis
Osteonectin SPARC 5q31.3-q32 Matrix protein that facilitates collagen
ossification
Ubiquitin RBX1 6q25.2-q27 Targets substrate proteins for
proteasomal degradation
Transcription factor ATF-4 ATF4 22q13.1 Transcriptional regulation of
osteoblasts and down-regulates
apelin to promote apoptosis
Elastase IIB ELA2B 1p36.21 Serine protease that hydrolyses
matrix protein

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