TY - JOUR
T1 - MicroRNA profiling of multiple osteochondromas
T2 - Identification of disease-specific and normal cartilage signatures
AU - Zuntini, M.
AU - Salvatore, M.
AU - Pedrini, E.
AU - Parra, A.
AU - Sgariglia, F.
AU - Magrelli, A.
AU - Taruscio, D.
AU - Sangiorgi, L.
PY - 2010/12
Y1 - 2010/12
N2 - Zuntini M, Salvatore M, Pedrini E, Parra A, Sgariglia F, Magrelli A, Taruscio D, Sangiorgi L. MicroRNA profiling of Multiple Osteochondromas: identification of disease-specific and normal cartilage signatures.Multiple osteochondroma (MO) is a rare skeletal disease characterized by the formation of multiple benign cartilage-capped bone tumors; in 1-5% of patients, a malignant transformation into peripheral chondrosarcoma may occur. This disorder is characterized by a large spectrum of germline mutations scattered along EXT1/EXT2 genes, the presence of a significant percentage of patients without alterations in EXT genes, and a large phenotypic variability. The molecular basis of MO genetic and clinical heterogeneity, including the causes underlying malignant transformation, is currently unknown. This leads to the lack of appropriate diagnostic/prognostic markers as well as of therapeutic options. Recently, specific microRNAs (miRNAs) were reported to be involved in chondrogenesis and inflammatory cartilage diseases. We therefore hypothesized a role for microRNAs in cartilaginous tumors and investigated microRNA expression in osteochondroma and normal cartilage tissues to evaluate whether they could affect osteochondromas onset and/or clinical manifestations. Our results indicate that miRNAs differentially expressed in MO samples may hamper the molecular signaling responsible for normal differentiation of chondrocytes, contributing to pathogenesis and clinical outcome. Although further studies are needed to validate our observations and to identify targets of miRNAs, this is the first study reporting on miRNA expression in growth plate and its comparison with pathological conditions.
AB - Zuntini M, Salvatore M, Pedrini E, Parra A, Sgariglia F, Magrelli A, Taruscio D, Sangiorgi L. MicroRNA profiling of Multiple Osteochondromas: identification of disease-specific and normal cartilage signatures.Multiple osteochondroma (MO) is a rare skeletal disease characterized by the formation of multiple benign cartilage-capped bone tumors; in 1-5% of patients, a malignant transformation into peripheral chondrosarcoma may occur. This disorder is characterized by a large spectrum of germline mutations scattered along EXT1/EXT2 genes, the presence of a significant percentage of patients without alterations in EXT genes, and a large phenotypic variability. The molecular basis of MO genetic and clinical heterogeneity, including the causes underlying malignant transformation, is currently unknown. This leads to the lack of appropriate diagnostic/prognostic markers as well as of therapeutic options. Recently, specific microRNAs (miRNAs) were reported to be involved in chondrogenesis and inflammatory cartilage diseases. We therefore hypothesized a role for microRNAs in cartilaginous tumors and investigated microRNA expression in osteochondroma and normal cartilage tissues to evaluate whether they could affect osteochondromas onset and/or clinical manifestations. Our results indicate that miRNAs differentially expressed in MO samples may hamper the molecular signaling responsible for normal differentiation of chondrocytes, contributing to pathogenesis and clinical outcome. Although further studies are needed to validate our observations and to identify targets of miRNAs, this is the first study reporting on miRNA expression in growth plate and its comparison with pathological conditions.
KW - Articular cartilage
KW - Endochondral ossification signaling pathways
KW - Growth plate cartilage
KW - MicroRNA profiling
KW - Multiple Osteochondromas
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U2 - 10.1111/j.1399-0004.2010.01490.x
DO - 10.1111/j.1399-0004.2010.01490.x
M3 - Article
C2 - 20662852
AN - SCOPUS:78149262630
VL - 78
SP - 507
EP - 516
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 6
ER -