OBJECTIVE: Herein, we report on a new point mutation in the SMPD-1 gene that was discovered in a patient with type B NPD.
METHODS AND RESULTS: A culture of the patient’s fibroblasts demonstrated that the observed clinical symptoms and reduced plasma high-density lipoprotein cholesterol (HDL-C) were associated with a reduced efflux of cholesterol. Examination of the skin fibroblasts demonstrated that ASM activity was reduced to approximately
60% of that observed in control cells, and a newly identified point mutation was found in codon 494 [Gly (GGT) -> Cys (TGT)] in the SMPD-1 gene. Furthermore, repeated measurements of the plasma HDL-C levels remained low (17.5-20.5 mg/dL), and the Apo Ion Channel Ligand Library research buy A-I- or HDL-mediated cholesterol efflux from the patient’s fibroblasts was significantly reduced as compared with control fibroblasts.
CONCLUSION: In summary, we identified a unique point mutation in a patient with type B NPD that was associated with various clinical findings,
including a low plasma HDL-C level. This reduced cellular cholesterol efflux may be implicated, at least in part, in low plasma HDL levels. (C) 2012 National Lipid Association. All rights reserved.”
“The litter-dwelling fungus Fusarium incarnatum LD-3 has been identified as a novel producer of laccase. The present work was oriented towards the optimization of various cultivation conditions for maximizing laccase production under solid substrate fermentation. The process parameters were optimized by the “”one factor at a time”" approach. Maximum laccsase production was obtained at pH 5.0 and at a temperature of 28 A degrees C with 60 % moisture content using rice bran as a substrate. The selleck kinase inhibitor laccase production was enhanced in the presence of aromatic inducer, i.e.
ortho-dianisidine at a concentration of 0.5 mM. Laccase production was further increased by 52.56 % when the medium was supplemented with 2 % (v/v) alcohol. Among the various amino acids tested as a growth factor and nitrogen source, D-Serine and DL-2 Amino n-butyric acid, DL-Alanine and L-Glycine were found to be Salubrinal the most suitable for laccase production. The highest laccase production (1,352.64 U/g) was achieved under optimized conditions, and was 2.1-fold higher than the unoptimized conditions. Thus, the novel litter-dwelling fungal isolate Fusarium incarnatum LD-3 seems to be an efficient producer of laccase and can be further exploited for biotechnological applications. This is the first report on the optimization of cultivation conditions and inducers for laccase production from Fusarium incarnatum LD-3.”
“Introduction: Sacral neuromodulation (SNM) of the lower urinary tract has proven to be safe and effective in patients with complaints of OAB syndrome who are not responding to conservative therapy. After five years of treatment the implanted system is still effective in 56-71% of patients. The loss of effect could be caused by adaptation of the nerve system to prolonged stimulation of the sacral nerves.