Bone Abstracts

Epigenetic mechanisms regulate gene expression and are heritable through cell divisions even though they do not involve modifications in the gene sequence. They include methylation and other chemical modifications of cytosine nucleotides, histone posttranslational modifications, microRNAs and other non-coding RNAs. Most cytosines in the human genome are methylated, particularly in the inactive, tightly packed, heterochromatin of autosomes, and the inactivated X-chromosome in f...

Alkaline phosphatase activity is critical for the mineralization of the bone matrix. Indeed, inactivating mutations of the ALPL gene, encoding the isoenzyme expressed in bone and liver, may result in the severe abnormalities of bone and other connective tissues that characterize hypophosphatasia. Nevertheless, the clinical spectrum of hypophosphatasia is rather broad and variable between a within families. Thus, along severe infantile forms, there are adult forms with mild man...

Osteoporosis (OP) is characterised by reduced bone mass, due to an insufficient osteoblast-mediated bone formation, unable to replace the bone tissue removed by osteoclasts. Mesenchymal stem cells (MSCs) are multipotent cells capable of differentiating into osteoblasts, adipocytes and chondrocytes. Epigenetic marks like DNA methylation could influence the differentiation potential of these cells into osteoblasts and, consequently, the risk of OP. To explore this hypothesis, we...

Background: Surgical treatment of type 2 diabetes, specially in obese patients, has provided good results in the control of blood glucose and Hb1Ac although its effect on bone health is not clear. The aim of this study was to evaluate gene expression of bone remodelling markers in type 2 diabetic Goto-Kakizaki (GK) non-obese rats after gastrojejunal bypass and sleeve gastroplasty, and their relationship with hormonal parameters.Materials and methods: We ...

Sclerostin, encoded by the SOST gene, functions as an inhibitor of the Wnt pathway and thus it is an important regulator of bone homeostasis. The fact that osteoblasts, the only cells expressing SOST, lay buried deeply in the bone matrix, poses intrinsic difficulties to the study of the regulation of this gene. Since RUNX2 and SP7/OSX are two known regulators of the differentiation of cells of the osteoblastic lineage, the aim of this study was to determine t...

Individuals with Down syndrome (DS) have a number of phenotypic features, including a short stature. It has been reported that people with DS have lower areal BMD than the general population, but this may be a biased result due to the smaller size of the skeleton, and it is unclear if individuals with DS have fragile bones. Thus, the objective of this study was to explore the skeleton of DS using two techniques, TBS and calcaneal ultrasound, which are not influenced by bone si...

Increased understanding of the biochemical pathways leading to MV-mediated initiation of skeletal, dental and vascular calcification has been attained through the extensive use of single and double knockout mouse models as well as via overexpression of genes by transgenesis. Our current integrated model of these pathways is compatible with the following sequence of events: MVs initiate mineral deposition by accumulation of Pi generated intravesicularly by the action...

Biographical DetailsJosé Luis MillánProfessor José Luis Millán received his early training in clinical chemistry and biochemistry at the University of Buenos Aires, Argentina, and his PhD in Physiological Chemistry at the University of Umeå, Sweden, in 1983. Professor Millán is currently based at the Children’s Hea...

Introduction: Denosumab monoclonal antibody approved for Osteoporosis’s treatment in Europe union and U.S.A. Dose of 60 mg every 6 months reduces the risk of vertebral, non vertebral and hip fractures. What is more increases BMDMaterial and methods: Descriptive observational study with densitometric characterisques and risk factors of 64 patients in Osteoporosis unit of HGUG Marañón from November 2011 to December 2013. Analyzing occurrence...

Adolescents with cerebral palsy (CP) have altered muscle tone and reduced bone mass, which can lead to impaired mobility and function increasing their risk for osteopenia in later life. OBJECTIVES: We evaluated the efficacy of two side-alternating vibration therapy (VT) protocols (9 minutes/day versus 15 minutes/day) over a 20-week program on mobility and bone health in adolescents with mild CP. METHODS: Sixteen participants (12.4±0.9 years; 10 males) with mild cerebral p...