Bone Abstracts

Betaine (BET) is a component of many food. It is an essential osmolyte and a source of methyl groups. BET consumed from food sources and through dietary supplements presents similar bioavailability. BET exerts an antioxidant activity and decreases inflammation states. Dietary supplement with BET are used in many inflammation-connected pathologies, although its mechanism of action is not fully understood. Recent studies have shown that BET stimulates muscle fibers differentiati...

Chronic inflammatory diseases are characterized by a bone destruction mediated by an increased osteoclast (OCL) activity. OCLs are phagocytic cells arising from the myeloid lineage. Indeed, OCLs derive from monocytes (MN-OCLs) and, in an inflammatory context, they also derive from dendritic cells (DC-OCLs). Despite this origin, their role in the immune responses is still unclear. OCLs in steady state have been reported to act as antigen-presenting cells that activate CD8+ regu...

Excess vitamin A has been associated with decreased cortical bone thickness and increased fracture risk. While most studies in rodents have been done using very high doses of vitamin A for a few days, we here investigate how clinically relevant doses of vitamin A, calculated from the Recommended Daily Allowance (RDA) in humans, affects the bone phenotype in mice after longer exposure.C57BL/6 mice were fed either a control diet (15 IU/g retinyl acetate), ...

Osteoclast-poor RANKL-dependent autosomal recessive osteopetrosis (ARO) is a rare bone disease characterized by an increase in bone density due to the failure of bone resorption by impaired osteoclast formation. Haematopoietic stem cell transplantation is not an effective therapy for this ARO form, since in bone RANKL is produced mainly by cells of mesenchymal origin. Whether also these cells, besides the osteoclast, are in some way affected by RANKL deficiency is not known. T...

Objectives: Early-onset osteoporosis is characterized by low bone mineral density (BMD) and reduced bone strength since childhood or young adulthood. Although several monogenic forms have already been identified, the spectrum of mutations and genes behind this condition remain inadequately characterized. Furthermore, it is not clear whether genetic factors determine susceptibility to bone fractures in children with normal BMD. In order to further explore the genetic background...

see PP474....

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...

Autosomal dominant type II osteopetrosis (ADO2) is a rare osteosclerotic disorder due to heterozygous missense mutations of CLC7 gene encoding the type 7 chloride channel. Our two labs (L’Aquila and Indianapolis) independently generated the first C57 black 6 (B6) mouse model of ADO2 by inserting the pG213R-clc7 mutation. We created pG213R-clc7 KI mice using a gene targeting approach. Homozygous mice showed lack of tooth eruption and died within ...

Objective: Turner syndrome (TS) is a chromosomal aberration characterized by total or partial loss of one of the two X-chromosomes, and affects about 1 in every 2500 girls. TS patients can develop the bone disease with decreased bone density and selective reduction in cortical bone thickness, which probably contributes to the increased fracture risk. However, the mechanisms underlying the bone disease remain poorly understood. Thus, the aim of this study was to investigate the...

Few drugs generate bone-stimulatory effects via epigenetic mechanisms. Modulation of CpG-residues hydroxymethylation in gene-promoters of key osteoblast-related factors (e.g., DLX5) induces their expression and increases osteoblast differentiation in vitro. The chemical properties of sulforaphane (SFN), a natural compound abundantly present in cruciferous vegetables like broccoli, suggest that it may have similar molecular and biological effects. Previous stu...