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Osteoarthritis
Published in Nicole M. Farmer, Andres Victor Ardisson Korat, Cooking for Health and Disease Prevention, 2022
The advancement of genome wide assessment studies has led to the identification of specific genomic alleles (genes) as other systemic risk factors, which may increase predisposition to OA. Although the conventional alleles linked to major histocompatibility complex (MHC) 1 are involved, other genetic pathways related to cytokine production and hormone receptors are considered candidate genes for knee OA. In fact, polymorphisms in the estrogen receptor may play a role in the higher prevalence of knee OA among postmenopausal women, while single nucleotide polymorphisms in the GDF5 gene responsible for the production of the inflammatory cytokine, transdermal growth factor (TGFβ), are thought to contribute to the increased prevalence of knee OA among Caucasians and Asian populations due to the higher frequency of the polymorphisms in these populations (Reynard and Loughlin, 2013).
Tissue Engineering of Articular Cartilage
Published in Kyriacos A. Athanasiou, Eric M. Darling, Grayson D. DuRaine, Jerry C. Hu, A. Hari Reddi, Articular Cartilage, 2017
Kyriacos A. Athanasiou, Eric M. Darling, Grayson D. DuRaine, Jerry C. Hu, A. Hari Reddi
The TGF-β superfamily also includes several other groups of growth factors known to affect cartilage growth and differentiation. Cartilage-derived morphogenetic proteins (CDMPs), osteogenic proteins (OPs), and growth/differentiation factors (GDFs) have all been investigated as possible means to accelerate regeneration of joint tissues in vitro and in vivo. Some of the growth factors included in these groups are actually the same molecule. For example, the pairs OP-1/BMP7, CDMP1/GDF5, and CDMP2/GDF-6 are the same growth factors with alternate designations (see Chapter 2). All of these molecules can affect chondrocytes in a manner similar to that of other TGF-β superfamily members. OP-1, CDMP1, and CDMP2 all increase proteoglycan synthesis and cellular proliferation (Erlacher et al. 1998), although OP-1 was found to be the more effective stimulus (Gruber et al. 2001). GDF5, which is naturally present in articular cartilage, also increases proteoglycan synthesis (Pacifici et al. 2000).
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Genetics: autosomal dominant, due to mutation in the gene GDF5 (growth/differentiation factor-5), also known as CDMP1 (cartilage-derived morphogenetic protein 1). GDF5 is a member of the TGF-beta superfamily and has a crucial role in cartilage and bone development along the proximo–distal axis. Homozygous mutations of the same gene cause more complex and severe phenotypes, such as Grebe syndrome, Du Pan syndrome, and acromesomelic dysplasia Hunter-Thompson type.
Recent Advances in Biomaterials for the Treatment of Bone Defects
Published in Organogenesis, 2020
Le-Yi Zhang, Qing Bi, Chen Zhao, Jin-Yang Chen, Mao-Hua Cai, Xiao-Yi Chen
PDGF promotes the recruitment and proliferation of cells, including MSCs, as well as blood vessel formation at the healing site. In synergistic combination with PLLA/Col/HA and PLLA/HA, PDGF-BB displayed enhanced osteogenic differentiation potential for bone regeneration.88 rhPDGF-BB (Augment bone graft®) was approved in 2015 for hindfoot and ankle fusion in arthritis patients.89 Growth differentiation factor 5 (GDF5) stimulates bone, cartilage, tendon and ligament formation.90 Several preclinical investigations demonstrated the application of rhGDF5 for bone induction and soft tissue growth. BB-1 (GDF-5V453/V456), a mutant growth factor, was developed for bone reconstruction due to its superior BMP receptor-IA binding.91 While both GDF5 and BB-1 displayed high angiogenic potential, BB-1 had greater bone repair capacity.92 TGF-β1 participates in bone remodeling with insulin-like growth factor 1 (IGF-1).3 TGF-β1 regulates osteoclastogenesis and recruits BMMSCs to the repair site, while IGF-1 induces the BMMSC differentiation into osteoblasts. It has been demonstrated that a combination of BMMSCs and IGF-1/TGF-β1 in a laminin gel scaffold improves ameliorates osteochondral defect model.93
The use of stromal vascular fraction (SVF), platelet-rich plasma (PRP) and stem cells in the treatment of osteoarthritis: an overview of clinical trials
Published in Artificial Cells, Nanomedicine, and Biotechnology, 2019
Sahar Mehranfar, Isa Abdi Rad, Ebrahim Mostafavi, Abolfazl Akbarzadeh
Several risk factors include genetic, ageing, obesity and low-grade systemic inflammation have been described and are being the subject of ongoing research in OA [2]. Data from twin and familial aggregation studies have estimated 40–65% genetic risk for OA. The strongest genetic association has been reported with growth differentiation factor 5 (GDF5) gene, which originally identified with candidate gene-based approach. Moreover, during the last 10 years, genome-wide association studies (GWAS) have established the remaining association with 21 genetic loci. These associated loci include genes that are involved in pathways related to cell signalling, apoptosis, mitochondrial damage and extracellular matrix remodelling. Although each individual allele exerts moderate to small risk in OA pathogenesis, their identification helps to discover the whole mechanism of the disease. In addition, it helps to find biomarkers to detect high-risk individuals or improve disease outcomes in the affected patients [3].
Proximal interphalangeal-level fracture in patient with symphalangism
Published in Case Reports in Plastic Surgery and Hand Surgery, 2022
Tommy Pan, Don Hoang, Alexander Payatakes
Recent literature continues to elucidate the underlying genetic causes of proximal (PIP level) symphalangism (SYM1). SYM1 is typically an autosomal dominant condition most commonly associated with mutations in the Noggin (NOG) or Growth differentiation factor 5 (GDF5) genes [11–13]. Noggin is a bone morphogenic protein (BMP) antagonist that is essential to the regulation of multiple signal pathways and morphogenesis of cartilage, bone, and joints [14–16]. GDF5 is a growth agonist of the transforming growth factor-β (TGF-β) family involved in growth, repair and reconstruction of cartilage and bone. Mutations that result in the underexpression of NOG or overexpression of GDF5, can result in bony fusion [17,18]. NOG mutations are also associated with conductive hearing loss [19].