Bone Abstracts

Background: Peroxisomal Biogenesis Disorders (PBD) is a group of rare metabolic diseases in which peroxisomal function is disrupted. PBD encompasses Zellweger Syndrome Spectrum (ZSS) disorders, which range in severity from classical ZS with severe neurological impairment and markedly reduced life expectancy to Refsum Disease presenting later in childhood. Recent fragility fractures in our ZSS patients in very early childhood prompted case series review.P...

Background: We have previously shown that MLO-Y4 osteocytes express a number of P2 receptors, respond to a broad range of nucleotides (e.g. UTP) by increasing intracellular calcium concentration and release ATP upon both mechanical and UTP stimulation. The aim of this study therefore is to investigate how the osteocytes release ATP and whether there is a difference in release pathway depending on the type of stimulus.Methods: ATP release was investigated...

Calcium represents one of the most versatile and universal signalling particles regulating many different cellular processes. Changes in [Ca2+]i give rise to a vast diversity of modulatory events, amongst others, influencing activities of kinases and ion channels.It was demonstrated that nuclear magnetic resonance therapy (NMRT) treatment in osteoarthritis led to reduced pain and improved function followed by increase in quality of ...

Background: The optimal level of 25-hydroxyvitamin D2 (25(OH) D) for a healthy bone is not clear, nor the effects of treatment with vitamin D. Few previous studies have measured treatment effect on BMD in young deficient individuals.Materials and methods: A treatment group of vitamin D deficient immigrant women and a control group of ethnic Swedish women were recruited during pregnancy. A treatment of 800–1600 IU cholecalciferol and 500–1000 mg...

Osteogenesis Imperfecta (OI) is a genetic condition which alters collagen biosynthesis(1). Prevalence is estimated at 1 in every 15, 000 births. It is a disorder with a wide spectrum of severity, with cases ranging from the extremely mild to those of perinatal mortality. Typical features include bone fragility; short stature; long bone deformity and persistent blue sclera(2). Although currently there is no cure for OI, with the input of a multidisciplinar...

Objective: The bone health index (BHI) has previously been shown to be 1.5% lower in Asian children than in Caucasian children, both living in USA. The aim of this study is to present reference curves for BHI of Chinese Han children and to compare to Asian children living in USA.Method: BHI is derived from the cortical thickness in the three middle metacarpals. It is determined with the BoneXpert medical device, which automatically analyses a standard bo...

Osteogenesis imperfecta (OI) type VI is caused by recessive null mutations in SERPINF1, encoding pigment epithelium-derived factor (PEDF), an anti-angiogenic secretory glycoprotein. Dominant mutations in IFITM5, encoding BRIL (Bone Restricted Ifitm-Like), a transmembrane protein upregulated in osteoblasts during mineralization, cause either type V OI (c.-14C>T, addition of 5 amino acids on BRIL) or atypical type VI OI (...

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Mutations in the PHEX gene cause X-linked familial hypophosphatemic rickets (XLH) with severe bone (osteomalacia) and tooth abnormalities being the distinguishing features of this disease. The PHEX mutations lead to an increase in ASARM peptides (acidic serine- and aspartate-rich motif) and osteopontin fragments which inhibit bone extracellular matrix mineralization. MEPE-derived ASARM has been shown to accumulate in tooth dentin of patients with XLH where it may impair dentin...

Autosomal dominant osteopetrosis type II (ADO2) is a rare osteosclerotic disease due heterozygous missense mutations of the CLC7 gene encoding the type seven chloride channel. Our two labs independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. Homozygous mice showed lack of tooth eruption and died within 30 days of age with severe osteopetrosis and central nervous system degenera...