LMNICE 1/2" x 132" Deck Belt for Hustler 600734

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Murthy et al. (2014) analyzed the KCNJ5 gene in 251 patients with apparent sporadic florid primary aldosteronism, and identified 3 heterozygous missense mutations, G247R (rs200170681; 600734.0003), E246K (600734.0007), and R52H (rs144062083). In addition, 12 (5%) of the 251 patients carried the rare SNP E282Q (rs7102584), present at a population frequency of 2% in the 1000 Genomes cohort. Although remote from the KCNJ5 selectivity filter, 3 of the 4 variants (E246K, R52H, and E282Q) were shown to alter inward rectification, conduction of Na+ currents, and angiotensin II (106150)-induced aldosterone release in the H295R cell line, a well-established model for the human zona glomerulosa cell. Results of electrophysiologic analysis of the G247R channel, however, were indistinguishable from those of the wildtype channel. Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. Faust, C. J., Verkerk, A. J. M. H., Wilson, P. J., Morris, C. P., Hopwood, J. J., Oostra, B. A., Herman, G. E. Geller et al. (2008) reported a novel familial form of aldosteronism in a father and 2 daughters. All were diagnosed with severe secondary hypertension (HTN) refractory to medical treatment by age 7 years. Geller et al. (2008) performed a variety of clinical, biochemical, and genetic studies to attempt to clarify the underlying molecular defect. Biochemical studies revealed hyporeninemia, hyperaldosteronism, and very high levels of 18-oxocortisol and 18-hydroxycortisol, steroids that reflect oxidation by both steroid 17-alpha hydroxylase and aldosterone synthase. These enzymes are normally compartmentalized in the adrenal fasciculata and glomerulosa, respectively. Administration of dexamethasone failed to suppress either aldosterone or cortisol secretion; these findings distinguished this clinical syndrome from glucocorticoid-remediable aldosteronism (GRA; 103900), another autosomal dominant form of HTN, and suggested a global defect in the regulation of adrenal steroid production. Because of unrelenting HTN, all 3 subjects underwent bilateral adrenalectomy, which in each case corrected the HTN. Adrenal glands showed dramatic enlargement, with paired adrenal weights as high as 82 grams. Histology revealed massive hyperplasia and cellular hypertrophy of a single cortical compartment that had features of adrenal fasciculata or a transitional zone, with an atrophic glomerulosa.

GIRK4 confers appropriate processing and cell surface localization to G-protein-gated potassium channels. In an APA from a patient from Wurzburg with primary hyperaldosteronism, Mulatero et al. (2012) identified a somatic KCNJ5 G151R mutation. The mutation was not present in germline DNA from peripheral blood. Choi, M., Scholl, U. I., Yue, P., Bjorklund, P., Zhao, B., Nelson-Williams, C., Ji, W., Cho, Y., Patel, A., Men, C. J., Lolis, E., Wisgerhof, M. V., Geller, D. S., Mane, S., Hellman, P., Westin, G., Akerstrom, G., Wang, W., Carling, T., Lifton, R. P.In an Italian mother and daughter with primary hyperaldosteronism (HALD3; 613677), Mulatero et al. (2012) identified heterozygosity for a c.452G-A transition in the KCNJ5 gene, resulting in a gly151-to-glu (G151E) substitution at a conserved residue in the selectivity filter. Electrophysiologic analysis in transfected HEK cells revealed that the mutant channel is no longer K+ selective but is similarly permeable to Na+ and K+. Both patients had normal-appearing adrenal glands by CT scan, and their symptoms were controlled by medication. Although the arg468-to-trp mutation (300823.0012) was associated with a mild form of MPS II, Whitley et al. (1993) found very severe MPS II (309900) manifestations in a boy who was found to have a mutation in the same codon: a G-to-A transition at nucleotide 1403 of the IDS gene resulted in substitution of glutamine for arginine-468 (R468Q). In a note added in proof, it was reported that fibroblast cultures showed a large acrocentric supernumerary marker chromosome, which presumably was responsible for the quantitatively and qualitatively atypical features of the proband's face. The proband died at the age of 23 months.

Sukegawa, K., Song, X.-Q., Masuno, M., Fukao, T., Shimozawa, N., Fukuda, S., Isogai, K., Nishio, H., Matsuo, M., Tomatsu, S., Kondo, N., Orii, T.

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Identification of critical residues controlling G protein-gated inwardly rectifying K+ channel activity through interactions with the beta-gamma subunits of G proteins. All intellectual property rights arising out of or in connection with the services shall be owned by VWR. Termination