Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.6.1.3 (ATPase)
 65,361 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In dynamics of experimental rickets proteins of rat sceletal muscles were studied after and before physical exercises. Occurrence of rickets was estimated by following concentration of inorganic phosphorus and calcium in blood and by X-ray examination of knee joint. An increase in total amount of sarcoplasmic proteins was observed within the first week of development of the disease. After physical exercices the effect was noticed also within the second week of the development of rickets. Content of fractions of the sarcoplasmic proteins was similar in all animals and within all the periods studied. Within four weeks content of myofibrillar proteins was decreased in rickety rats, which were not subjected to physical exercices. In rats of the both experimental groups the ATPase activity of actomyosin was not distinctly altered within all the periods studied.
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PMID:[Study of proteins of rat skeletal muscles in experimental rickets]. 12 94

Provision of Ca2+ for egg shell calcification in the avian uterus [egg shell gland (ESG)] derives mostly from vitamin D-dependent intestinal Ca2+ absorption from the diet. Ca2+ absorption is strongly linked to the intestinal vitamin D-dependent calbindin D28K (D28K) concentration. The laying hen ESG also contains D28K, and again, Ca2+ transport into the shell appeared to be linked to the ESG D28K concentration. However, evidence is now presented that ESG D28K synthesis may be estradiol (E2) dependent and vitamin D independent under certain conditions. One-day-old female chicks fed a vitamin D-free diet for as long as 6 weeks and then repeatedly injected im with E2 for up to 3 more weeks developed frank rickets, but possessed precociously matured reproductive tracts. While the tiny presumptive ESGs of nonestrogenized vitamin D-depleted chicks were devoid of D28K, the highly developed ESG, including the isthmus, of estrogenized chicks contained D28K. The ESGs of nonestrogenized, vitamin D-replete chicks also exhibited no development or detectable D28K. Regardless of whether vitamin D depleted or replete, estrogenized chick ESG contained similar D28K and D28K mRNA concentrations. Immunohistochemical techniques showed that the endometrial cellular localization of both D28K and Ca(2+)-ATPase (Ca2+ pump) in estrogenized chicks was similar to that in mature laying hens. There was no trace of D28K, nor was there any stimulation of Ca2+ absorption, in duodenum of vitamin D-free, immature chicks regardless of E2 treatment. As expected, both D28K and D28K mRNA were present in vitamin D-replete chick duodenum. We conclude that in E2-treated chicks, ESG D28K gene expression may be vitamin D independent and E2 dependent. This is the first clear demonstration of hormone-dependent tissue-specific D28K gene expression in the chick.
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PMID:Tissue-specific regulation of shell gland calbindin D28K biosynthesis by estradiol in precociously matured, vitamin D-depleted chicks. 841 23

Without the vitamin D receptor (VDR), adult mammals develop reduced intestinal calcium absorption, rickets, and osteomalacia. Intestinal calcium absorption normally increases during pregnancy so that the mother can supply sufficient calcium to her fetuses. The maternal skeleton is rapidly resorbed during lactation to provide calcium needed for milk; that lost bone mineral content (BMC) is completely restored after weaning. We studied Vdr null mice to determine whether these adaptations during pregnancy and lactation require the VDR. Vdr nulls were severely rachitic at 10 wk of age on a normal diet. Pregnancy induced a 158% increase in Vdr null BMC to equal the pregnant wild-type (WT) value. Lactation caused BMC losses that were equal in Vdr nulls and WT. Vdr nulls recovered after weaning to a BMC 50% higher than before pregnancy and equal to WT. Additional analyses showed that during pregnancy, duodenal (45)Ca absorption increased in Vdr nulls, secondary hyperparathyroidism lessened, bone turnover markers decreased, and osteoid became fully mineralized. A genome-wide microarray analysis of duodenal RNA found marked reduction of Trpv6 in Vdr nulls at baseline but a 13.5-fold increase during pregnancy. Calbindin D-9K (S100g) and Ca(2+)-ATPase (Pmca1) were not altered by pregnancy. Several other solute transporters increased during pregnancy in Vdr nulls. In summary, Vdr nulls adapt to pregnancy by up-regulating duodenal Trpv6 and intestinal (45)Ca absorption, thereby enabling rapid normalization of BMC during pregnancy. These mice lactate normally and fully restore BMC after weaning. Therefore, VDR is not required for the skeletal adaptations during pregnancy, lactation, and after weaning.
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PMID:Pregnancy up-regulates intestinal calcium absorption and skeletal mineralization independently of the vitamin D receptor. 2005 86

Primary distal renal tubular acidosis (dRTA) is a rare genetic disorder caused by impaired distal acidification due to a failure of type A intercalated cells (A-ICs) in the collecting tubule. dRTA is characterized by persistent hyperchloremia, a normal plasma anion gap, and the inability to maximally lower urinary pH in the presence of systemic metabolic acidosis. Common clinical features of dRTA include vomiting, failure to thrive, polyuria, hypercalciuria, hypocitraturia, nephrocalcinosis, nephrolithiasis, growth delay, and rickets. Mutations in genes encoding three distinct transport proteins in A-ICs have been identified as causes of dRTA, including the B1/ATP6V1B1 and a4/ATP6V0A4 subunits of the vacuolar-type H+-ATPase (H+-ATPase) and the chloride-bicarbonate exchanger AE1/SLC4A1. Homozygous or compound heterozygous mutations in ATP6V1B1 and ATP6V0A4 lead to autosomal recessive (AR) dRTA. dRTA caused by SLC4A1 mutations can occur with either autosomal dominant or AR transmission. Red blood cell abnormalities have been associated with AR dRTA due to SLC4A1 mutations, including hereditary spherocytosis, Southeast Asia ovalocytosis, and others. Some patients with dRTA exhibit atypical clinical features, including transient and reversible proximal tubular dysfunction and hyperammonemia. Incomplete dRTA presents with inadequate urinary acidification, but without spontaneous metabolic acidosis and recurrent urinary stones. Heterozygous mutations in the AE1 or H+-ATPase genes have recently been reported in patients with incomplete dRTA. Early and sufficient doses of alkali treatment are needed for patients with dRTA. Normalized serum bicarbonate, urinary calcium excretion, urinary low-molecular-weight protein levels, and growth rate are good markers of adherence to and/or efficacy of treatment. The prognosis of dRTA is generally good in patients with appropriate treatment. However, recent studies showed an increased frequency of chronic kidney disease (CKD) in patients with dRTA during long-term follow-up. The precise pathogenic mechanisms of CKD in patients with dRTA are unknown.
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PMID:Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead. 3058 51

Distal renal tubular acidosis (dRTA) is characterized by metabolic acidosis due to uric acid dysfunction. The aim of this study was to demonstrate the genetic diagnosis of Chinese children with dRTA by whole-exome sequencing. From Jan. 2010 to Sept. 2015, 16 children with dRTA were recruited to investigate the possibility of genetic diagnosis and to examine any genotype-phenotype relationships in these patients. Sanger sequencing was used to confirm mutations identified by whole-exome sequencing. Clinical and biological features in the patients included hyperchloremic metabolic acidosis, impaired growth, hypokalemia, nephrocalcinosis, nephrolithiasis, hypercalciuria, hypocitraturia, and rickets or osteomalacia. Seventeen mutations in the solute carrier family 4 member 1 (SLC4A1), ATPase H+ transporting V0 subunit a4 (ATP6V0A4), ATPase H+ transporting V1 subunit B1 (ATP6V1B1), WNK lysine deficient protein kinase 1 (WNK1) and the claudin 16 (CLDN16) were identified in 15 patients, and 14 of these mutations are novel. Only 1 patient was negative for any mutations. Our results demonstrate the existence of SLC4A1, ATP6V1B1, ATP6V0A4, WNK1 and CLDN16 mutations in Chinese children with dRTA and indicate that compound heterozygosity at 2 or more different but related genes can be responsible for its pathogenesis. This study also indicates that whole-exome sequencing is a labor and cost-effective means of analyzing dRTA-associated genes.
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PMID:Clinical features and genetic findings in Chinese children with distal renal tubular acidosis. 3194 30