ABSTRACT
El raquitismo hipofosfatémico hereditario es una condición genética asociada con una mineralización ósea alterada causada por la deficiencia de fosfato. Produce deformidad esquelética y retraso del crecimiento en la infancia. Se describen diferentes patrones de herencia según el locus involucrado. Dado el solapamiento de los fenotipos y la dificultad en analizar genealogías reducidas, los estudios moleculares son importantes para establecer la causa genética y realizar el abordaje familiar. La forma recesiva del raquitismo hipofosfatémico (ARHR, OMIM #241520) es una condición extremadamente poco frecuente reportada en familias de origen europeo y de Oriente Medio. Las mutaciones con pérdida de función del gen DMP1 (dentin matrix acidic phosphoprotein 1) se asocian al raquitismo hipofosfatémico hereditario tipo 1. En este artículo presentamos el primer reporte de una familia argentina con raquitismo hipofosfatémico hereditario por mutación en DMP1
Hereditary hypophosphatemic rickets is a genetic condition associated with impaired bone mineralization caused by phosphate deficiency. It results in skeletal deformity and growth retardation in early childhood. Different inheritance patterns have been described according to the locus involved. Given the phenotypic overlapping and the difficulty in analyzing reduced genealogies, molecular studies are important to establish the genetic cause and implement a family-centered approach. The autosomal recessive form of hypophosphatemic rickets (ARHR, OMIM 241520) is an extremely rare condition reported in families of European and Middle Eastern descent. Loss-of-function mutations in the DMP1 (dentin matrix acidic phosphoprotein 1) gene are associated with hereditary hypophosphatemic rickets type 1. In this article, we describe the first report of an Argentine family with hereditary hypophosphatemic rickets due to a mutation in the DMP1 gene.
Subject(s)
Humans , Male , Infant , Familial Hypophosphatemic Rickets/genetics , Argentina , Calcification, Physiologic , MutationABSTRACT
Objective To study the chemical structure and the conformation in the aqueous solution for a novel neutral polysaccharide (DMP2-A) purified from Dendrobium moniliforme. Methods The chemical structural characterization was determined with sugar analyses, methylation analyses, and IR spectroscopic methods. Moreover, the molecular weight and conformation in the aqueous solution were analyzed by size-exclusion chromatography (SEC) combined with laser light scattering (LLS). Results The polysaccharide DMP2-A consisted of 1-linked terminal xylosyl residue, 1,3-, 1,4-, and 1,3,6-linked glucosyl residues, 1,3-, 1,4-, and 1,3,6-linked galactosyl residues, 1,3,5-linked arabinosyl residue and 1,3,6-linked mannosyl group. Moreover, the weight-average molecular (Mw) of polysaccharide DMP2-A was determined to be (1.07 × 104). A small amount of aggregates were formed with the aggregation number of approximately 38 in the 0.15 mol/L NaNO3 aqueous solution. Conclusion DMP2-A is a kind of polysaccharide with multi-branch and complicated structure. It’s the first time that the polysaccharide DMP2-A was isolated and the chemical structure and conformation in aqueous solution were reported.
ABSTRACT
Objective To evaluate the frequency of mutations that occur in PHEX,FGF - 23 and DMP - I genes associated with familial hypophosphatemic vitamin D resistant rickets among 6 patients from 4 families in China. Methods The peripheral blood samples from 4 families were collected and other 10 persons from different families were selected as normal controls,and then the total gene DNA was extracted from the whole blood. Using polymerase chain reaction(PCR)amplication,sequences of the exons and flanking zones in PHEX,FGF - 23 and DMP - I genes were sequenced by direct DNA sequencing and TA cloning,and then the mutations found were analyzed. Results In exon 6 of DMP - I gene,c1218 C ﹥ T and c1230 G ﹥ A mutations were detected in lineage 1,as same sense mutation (propositus and its sister:homozygous mutation;mother:heterozygous mutation);c1333 - 1334 GC ﹥ TT mutation,as missense mutation,was found in exon 12 of PHEX gene on the propositus of lineage 2,determined as heterozygous muta-tion,but the same mutation was not found from their parents. In exon 3 of FGF - 23 gene,c716 C ﹥ T,p. T239M hetero-zygous mutation was found on the propositus and its mother. In exon 6 of the DMP - I gene,c205 A ﹥ T homozygous mutation was detected in lineage 3. In lineage 3,c716 C ﹥ T mutation of the FGF - 23 gene was detected,and the pro-positus and their father had the same mutation. No disease causing mutations of the PHEX,FGF - 23 and DMP - I genes were detected in the family members of lineage 1,3 and 4. Conclusions The mutation c1333 - 1334 GC ﹥ TT detected in exon 12 of PHEX gene might be the cause of disease for the propositus of lineage 2,as missense mutation, which needs further verification;c716 C ﹥ T,p. T239M mutation of the FGF - 23 gene detected in lineage 2 and 3 might not be the causes of the hypophosphatemic rickets and abnormal phenotype.
ABSTRACT
During bone remodeling, there is requirement of differentiation of osteoblastic cells. Previously, we identified proteins differentially expressed in soft tissue during bone healing. Of these proteins, we focused the effect of LTF on differentiation of osteoblast. In order to analyze the osteogenic ability of LTF, we treated conditioned media collected from human LTF-stably transfected HEK293T cells into osteoblastic MC3T3-E1. The results showed that the activity and expression of alkaline phosphatase were increased in MC3T3-E1 cells treated with conditioned media containing LTF in dose- and time-dependent manner. At the same time, we observed the significant increase of the expression of osteoblastic genes, such as ALP, BSP, COL1A1, and OCN, and along with matrix mineralization genes, such as DMP1 and DMP2, in LTF conditioned media-treated groups. Moreover, the result of treating recombinant human LTF directly into osteoblastic MC3T3-E1 showed the same pattern of treating conditioned media containing LTF. Our study demonstrated that LTF constitutively enhances osteoblastic differentiation via induction of osteoblastic genes and activation of matrix mineralization in MC3T3-E1 cells.
Subject(s)
Humans , Alkaline Phosphatase , Bone Remodeling , Culture Media, Conditioned , Lactoferrin , OsteoblastsABSTRACT
OBJECTIVE: To establish a method for the determination the contents of dimethyl phthalate (DMP), diethyl phthalate (DEP) and dibutyl phthalate (DBP) in lansoprazole enteric-coated capsules. METHODS: Based on RP-HPLC/UV, the method used C18 column (4.6 mm × 250 mm, 5 μm) for separation, methanol-water (75: 25) as mobile phase for isocratic elution and detection wavelength 230 nm. RESULTS: The quantification of diethyl phthalate in four batches of lansoprazole enteric-coated capsules was carried. The concentration and UV peak area with a good linear relationship within the following: the linear equation of DMP was Y = 48.848ρ - 2.8112 (r = 0.9999) in range of 1.4 - 14 μg · mL-1, the linear equation of DEP was Y = 67.619ρ - 30.754 (r = 0.9990) in the range of 1.36 - 20.4 μg · mL-1. The linear equation of DBP was Y = 36.759X - 4.8507 (r = 0.9999) in the range of 1.5 - 15.5 μg · mL-1. The sample recovery of DMP, DEP and DBP was 91.3%, 96.1% and 94.7%. The RSD of sample recovery was 2.9%, 4.4% and 4.7%. CONCLUSION: The method is simple, sensitive and with a strong anti-interference ability. It can determination accurately the contents of DMP, DEP and DBP in lansoprazole enteric-coated capsules. Copyright 2012 by the Chinese Pharmaceutical Association.
ABSTRACT
Dentin matrix protein 1 (DMP1) is an acidic phosphoprotein that plays an important role in mineralized tissue formation by initiation of nucleation and modulation of mineral phase morphology. The purpose of the present study was to examine the immunoexpression of DMP1 in tooth germs of 7 human fetuses at different gestational ages (14, 16, 19, 20, 21, 23 and 24 weeks) comparing with completed tooth formation erupted teeth. The results showed the presence of DMP1 in the dental lamina, as well as in the cells of the external epithelium, stellate reticulum and stratum intermedium of the enamel organ. However, in the internal dental epithelium, cervical loop region and dental papilla some cells have not labeled for DMP1. In the crown stage, DMP1 was expressed in the ameloblast and odontoblast layer, as well as in the dentinal tubules of coronal dentin near the odontoblast area. Erupted teeth with complete tooth formation exhibited immunolabeling for DMP1 only in the dentinal tubules mainly close to the dental pulp. No staining was observed in the enamel, predentin or dental pulp matrix. DMP1 is present in all developing dental structures (dental lamina, enamel organ, dental papilla) presenting few immunoexpression variations, with no staining in mineralized enamel and dentin.
A proteína da matriz dentinária 1 (DMP1) é uma fosfoproteína ácida que tem sido relacionada diretamente ao processo de mineralização dos tecidos em formação sendo iniciadora do processo de nucleação e modulação da fase mineral. O objetivo desse trabalho foi avaliar a imunoexpressão da DMP1 em germes dentários em diferentes fases da odontogênese, obtidos de 7 fetos humanos em diversos estágios gestacionais (14, 16, 19, 20, 21, 23 e 24 semanas), comparando-se com dentes com rizogênese completa. Os resultados mostraram que a DMP1 esteve expressa na lâmina dentária, bem como, nas células do epitélio externo, retículo estrelado e estrato intermediário do órgão do esmalte. Diferentemente, no epitélio interno do órgão do esmalte, alça cervical e papila dentária algumas células não apresentaram a DMP1. Nas fases de coroa, os ameloblastos e odontoblastos apresentaram marcação positiva para a DMP1, bem como os túbulos dentinários da dentina coronária próximos à região odontoblástica. Os dentes com rizogênese completa exibiram marcação para a DMP1 apenas nos túbulos dentinários principalmente próximos à polpa dentária. Nenhuma marcação foi observada na matriz de esmalte ou pré-dentina, nem na polpa dentária. Concluímos que a DMP1 está presente em todas as fases da odontogênese, tanto na lâmina dentária, órgão do esmalte, bem como na papila dentária, com pequenas variações de nuances de expressão, estando ausente na dentina e esmalte mineralizados.
Subject(s)
Humans , Extracellular Matrix Proteins/biosynthesis , Phosphoproteins/biosynthesis , Tooth Germ/metabolism , Extracellular Matrix Proteins/genetics , Extracellular Matrix/metabolism , Fetal Development , Gene Expression , Immunohistochemistry , Odontoblasts/metabolism , Odontogenesis/physiology , Phosphoproteins/geneticsABSTRACT
BACKGROUND: Epoxy resin compounds are one of the common causes of occupational allergic contact dermatitis. In Korea, most cases of allergic contact dermatitis from epoxy resin compounds have been caused by the epoxy resin itself. We report a rare case of allergic contact dermatitis which was caused by epichlorohydrin, an ingredient of epoxy resin and 2,4,6-tris-(dimethylaminomethyl)phenol (tris-DMP), a kind of hardeners. CASE REPORT: A 43-year-old man, who had worked at the epoxy resin glue manufacturing factory since 1999, presented with mild and intermittent erythematous papules and rashes on his face, neck, trunk, and both arms. He was dealing with epoxy resin, epichlorohydrin, bisphenol A and hardeners. After a new hardener was added in August 2008, his skin lesions worsened from what he had experienced in the past. A skin patch test was performed to identify the causative chemicals of the skin lesion. Epichlorohydrin and tris-DMP elicited positive reactions after 48 hours and increased after 96 hours. CONCLUSION: This case confirmed occupational allergic contact dermatitis caused by epichlorohydrin and tris-DMP, an ingredient of epoxy resin and a hardener, respectively.
Subject(s)
Adult , Humans , Adhesives , Arm , Benzhydryl Compounds , Dermatitis, Allergic Contact , Epichlorohydrin , Exanthema , Korea , Neck , Patch Tests , Phenols , SkinABSTRACT
A bacterial strain which could grow well on the substrate of PAEs as the sole source of carbon and energy was isolated from contaminated sludge in the river of WeiFang in ShangDong province and it was designated as JDC-3. Based on the morphology,biophysical and biochemical properties as well as molecular characteristics,this isolate was preliminarily identified as Delftia sp.. A fragment of phthalate dioxygenase gene was successfully amplified from the genus of Delftia for the first time using a set of degenerate primers. Meanwhile,the degradation capability of JDC-3 was determined by HPLC using DMP as test substrate. The results showed that the optimal pH and temperature were at 7.0～8.0 and 30?C～35?C respectively. The degradation kinetics of JDC-3 was studied in different initial DMP concentration under optimal conditions. The results indicated that the degradation dynamic equation was ln C =-0.06837 t + A when DMP concentration was lower than 300 mg/L,with half life of 12.48 h. The degradation rate decreased and half life of JDC-3 prolonged as the initial concentration kept on increasing.
ABSTRACT
El eje hueso-riñón ha sido pensado como un mecanismo por el cual el esqueleto se comunica con el riñón para coordinar la mineralización de la matriz extracelular ósea con el manejo renal del fosfato. Osteoblastos /osteocitos están bien preparados para coordinar las homeostasis sistémica de fósforo y la mineralización ósea, ya que ellos expresan todos los componentes implicados en un posible eje hueso-riñón, incluyendo al PHEX, FGF-23, MEPE, y DMP1. Los efectos autocrinos de proteínas de la familia SIBLING como MEPE y DMP1 sobre los osteoblastos podrían regular la producción de proteínas de matriz extracelular que intervienen en la mineralización. El riñón provee uno de los efectores de este eje que regula el balance de fosfato a través de la expresión apical de los cotransportadores sodio/fosfato NaPi-IIa y NaPi-IIc en el túbulo proximal. Central en este eje es el FGF-23, producido por los osteoblastos que tiene acciones fosfatúricas sobre el riñón. Cuando se descubrió que el FGF23, la primera fosfatonina era de origen osteoblástico/osteocitico, quedó establecido el eje hueso-riñón. Probar definitivamente la existencia de este eje hueso-riñón y definir exactamente su rol fisiológico requerirá de investigaciones adicionales
The bone-kidney axis has been thought as a mechanism for the skeleton to communicate with the kidney to coordinate the mineralization of extracelular matrix with the renal handling of phosphate. Osteoblasts / osteocytes are well suited for coordinating systemic phosphate homeostasis and mineralization, since they express all of the implicated components of a possible bone-kidney axis, including PHEX, FGF-23, MEPE, and DMP1. In addition, autocrine effects of SIBLING proteins as MEPE and DMP1 on osteoblasts could regulate the production of ECM proteins that regulate mineralization. The kidney provides one of the effectors of the axis that regulates phosphate balance through the apical expression of NaPi-IIa and NaPi-IIc in proximal tubules. Central in this axis is FGF-23, produced by osteoblasts that has phosphaturic actions on the kidney. When FGF23, the first phosphatonin, was discovered to be of osteoblastic/osteocyte origin, the bone kidney axis was established. Proving the existence of this bone-kidney axis and defining its physiological role will require additional investigations
Subject(s)
Calcification, Physiologic/physiology , Sodium-Phosphate Cotransporter Proteins/analysis , Fibroblast Growth Factor 2/metabolism , Hypophosphatemia/metabolism , Phosphorus/metabolism , Sodium-Phosphate Cotransporter Proteins/biosynthesisABSTRACT
The urinary levels of both dimethyl phosphate and dimethyl thiophosphate, which are the metabolites of organophosphorus pesticides, were investigated. The samples were obtained from four healthy subjects, every 5 or 7 daysover a period of 8 months. They are rural inhabitants and do not spray agricultural chemicals themselves. Both of the metabolites were always detected from all samples of these subjects, and their levels were elevated sporadically regardless of whether the samples were obtained during the farming season or not.<BR>These results suggest that people who live in rural areas are always at risk of being exposed to pesticides in and out of season and that thepesticides or their metabolites remaine in bodies over a long period.