Bone Abstracts

Objectives: We sought to identify the disease-causing mutations in two unrelated girls with a clinical diagnosis of osteogenesis imperfecta type IV.Methods: Whole-exome sequencing and cellular studies in skin fibroblasts were conducted.Results: We identified two homozygous variants in SPARC (NM_003118.3; c.497G>A (p.Arg166His) in individual 1; c.787G>A (p.Glu263Lys) in individual 2). Secreted protein, acidic, cyste...

The bioapatite crystals have a multilayer hydrate shell, which contains impurity ions such as magnesium, sodium, potassium and it is not clear the qualitative and quantitative characteristics of noapatite entourage. The major component noapatite environment in bone is water and we studied the surface of nanocrystals from trabecular bone in healthy rats and during the water deficiency.In experiment we use adult laboratory rats (8 months age), remove the c...

Childhood obesity is a serious global public health problem, reaching 40% of children in developed countries. While the connection between under-nutrition and growth retardation is well documented, the opposite connection between over-nutrition and bone development was barely studied. Obese children grow faster in height than normal-weighed children, and prospective studies demonstrated an over-presentation of obese children amongst fracture cases. Yet, the cellular and molecu...

Introduction: We aimed to study efficacy of zoledronic acid (Zol) in the treatment of postmenopausal osteoporosis within 3 years.Methods: Clinical, bone mineral density (BMD) by DEXA (L1–L4, femoral Neck) (baseline, 12, 24, and 36 months); biochemical; immunoenzyme assay of bone turnover markers (BTM) – osteocalcin (OK) β-C-terminal telopeptides of type 1 collagen (CTX) (baseline, 1, 3, 6, 9, and 12 after one, two, three infusions).<p ...

Dominant osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility and growth delay. Nowadays no definitive cure is available. A zebrafish OI model (Chihuahua) carrying an heterozygous G574D substitution in the α1 chain of collagen type I was generated by ENU mutagenesis and is available in our laboratory. Control (WT) and mutant (Chi+/−) fish growth was followed up from day 1 post fertilization to ...

Introduction: Recessive osteogenesis imperfecta (OI) is caused by mutations in genes encoding proteins involved in post-translational interactions with type I collagen. Types VII–IX OI involve defects in the collagen prolyl 3-hydroxylation complex, which modifies α1(I)Pro986. PPIB encodes CyPB, a complex component with PPIase activity and the major isomerase facilitating collagen folding. We investigated the role of CyPB in collagen post-translational modifications a...

Recessive osteogenesis imperfecta (OI) is caused by mutations in genes encoding proteins involved in post-translational interactions with type I collagen. A founder mutation in a new gene responsible for recessive OI has recently been reported in Bedouins from Israel and Saudi Arabia, who have a homozygous deletion of TMEM38B exon 4 and surrounding intronic sequence. TMEM38B encodes TRIC-B, an integral ER membrane monovalent cation channel involved in Ca...

Objective: To examine bone mineral density (BMD) at the femoral neck (FN) and lumbar spine (LS) in patients (pts) with early axial spondyloarthritis (axSpA).Methods: 73 pts (33 men and 40 women) with early axSpA were included in this study. Pts fulfilled ASAS criteria. Pts enrolled in the study had inflammatory back pain for < 5 years: mean disease duration 19.9±14.4 months. Mean age 28.3±6.4 years, mean BASDAI 4.1±1.9; mean ASDAS-CRP ...

Research design and methods: A characterisation of 225 European (Russian) osteoporotic postmenopausal women, treated for 2 years with amino-bisphosphonate zoledronic acid (zol), with respect to the adenosine/cytosine (A/C) rs2297480 farnesyl pyrophosphate synthase (FDPS) gene polymorphism, was carried out by PCR-based enzymatic digestion and quantitative PCR allelic discrimination on genomic DNA extracted from blood leukocytes. The association between these polymorphism genoty...

Objectives: Osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility. No definitive cure is available and the search for novel treatments is necessary. The small teleost D. rerio is particularly appealing for drug screening approaches. A zebrafish OI model (Chihuahua) carrying in heterozygosis the G574D substitution in the α1 chain of collagen type I is available. To use this model for ...