Bone Abstracts

Deficiency in tissue nonspecific alkaline phosphatase (TNAP) causes hypophosphatasia (HPP), which is mainly characterized by skeletal hypomineralization. TNAP promotes mineralization by dephosphorylating the mineralization inhibitor inorganic pyrophosphate (PPi), which is generated from adenosine triphosphate (ATP) by ectonucleotide pyrophosphatase phosphodiesterase 1 (NPP1). Chronic recurrent multifocal osteomyelitis (CRMO), a sterile bone auto-inflammatory disease, has been ...

Objectives: Osteogenesis Imperfecta (OI) is a hereditary disorder effecting approximately 1 in 20 000 births. Symptoms include; low bone mass, recurrent fractures, varying degrees of short stature and deformity. There is currently no disease specific quality of life (QoL) measure for children with OI. This study used a mixed methods approach to develop a QoL measure for the paediatric OI population. Patient reported outcome measure development is an iterative process, moving b...

Introduction: Recent studies have found anti-inflammatory, antioxidant and bone forming properties of green (GTP) and black tea (BTP) polyphenols. However most of these studies are focussed on specific genes or pathways. We wanted to know if GTP and BTP could help to reduce symptoms of chronic inflammation especially bone loss and what are the possible genes and pathways involved. We were especially interested in unexplored pathways which may play a role in regaining bone heal...

Autotaxin (ATX) is a secreted protein produced by various tissues in the body including the liver, adipose tissue and bone. Autotaxin (ATX) is an enzyme with a phospholipase D activity responsible for cleavage of lysophosphatidyl-choline (LPC) in lysophosphatidic acid (LPA). LPA is a bio phospholipid, which acts as a growth factor, affecting proliferation, differentiation, and migration. It has been shown that the biological effect of LPA could be the direct consequence of loc...

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Mammalian target of rapamycin (mTOR) is a serine–threonine kinase that plays a central role in a number of key cellular pathways that have been previously implicated in bone formation. mTOR mediates these diverse roles by forming two multi-protein complexes, mTORC1 and mTORC2, each of which is defined by unique proteins raptor and rictor respectively.Studies from our laboratory have previously demonstrated that inhibition of mTORC1 increases the ost...

Trabecular bone score (TBS) extracts a texture parameter from pixel grey-level variations in DXA lumbar spine images. The TBS is claimed to be a measure of trabecular structure and was validated in an in-vitro study of vertebral bodies with micro-CT1. TBS has shown the potential for fracture pre-diction in adults2. However, data are sparse regarding the reliability and usefulness of TBS3 and the method has not previously been applied i...

Introduction: The creatine kinase (CK) is a dimeric enzyme, involved in energetical metabolism. It is present in many tissues, but higher concentration in skeletal and cardiac muscle.Therefore, conditions that involve muscle tissue may increase this serum enzyme. Such enzyme elevation is usually observed in inflammatory myopathies and others autoimmune diseases.Sometimes some elevation in CK is not fully understood out off these co...

Neurofibromatosis type I (NF1) is a monogenetic disorder caused by mutations in the NF1 gene encoding for the Ras-GAP protein neurofibromin. Apart from benign tumour development NF1 is frequently associated with skeletal manifestations such as osteopenia or debilitating focal skeletal dysplasia. To assess a function of Nf1 in osteocytes we here apply a combinatorial approach of biophysical, histological and molecular techniques allowing differential analysis ...

Heritability of bone mineral density (BMD) varies at skeletal sites, possibly reflecting different relative contributions of environmental and genetic influences. To quantify shared genetic influences across different sites, we estimated the genetic correlation of BMD at the upper limb (UL), lower limb (LL) and skull (S) obtained from whole body DXA scans, using bivariate genome-wide complex trait analysis (GCTA). The study (n=9395) combined data from the Avon Longitu...