Granuphilin is a crucial component of the docking machinery of insulin-containing vesicles to the plasma membrane. Here, we show that the granuphilin promoter is a target of SREBP-1c, a transcription factor that controls fatty acid synthesis, and MafA, a beta cell differentiation factor. Potassium-stimulated insulin secretion (KSIS) was suppressed in islets with adenoviral-mediated overexpression of granuphilin and enhanced in islets with knockdown of granuphilin (in which granuphilin had been knocked down). SREBP-1c and granuphilin were activated in islets from beta cell-specific SREBP-1c transgenic mice, as well as in several diabetic mouse models and normal islets treated with palmitate, accompanied by a corresponding reduction in insulin secretion. Knockdown- or knockout-mediated ablation of granuphilin or SREBP-1c restored KSIS in these islets. Collectively, our data provide evidence that activation of the SREBP-1c/granuphilin pathway is a potential mechanism for impaired insulin secretion in diabetes, contributing to beta cell lipotoxicity.

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The clinical features of partial deletion 11q were correlated with the size of the deleted region. Ten Japanese children with partial deletion of 11q were investigated. They were divided into three groups. Three patients in the first group had interstitial deletions and preserved subband q24.1. Six patients in the second group demonstrated terminal deletion of 11q including subband q24.1, with typical features of 11q‐syndrome (Jacobsen syndrome). The third group included only one patient, who had terminal deletion of 11q without characteristics of typical 11q—syndrome. Prominent features of patients in the first group included severe mental and motor developmental delay, seizures, cleft lip and palate, and ophthal‐mological findings. Patients in the second group showed mild to moderate developmental delays without deterioration. Abnormalities in neuroimages, high intensity in the cerebral white matter in T2‐weighted magnetic resonance (MR) images, and recurrent infections were not observed after the age of 7 years. The subject in the third group, with the smallest amount of deleted chromosome, did not show developmental delays, suggesting that some unknown genes related to developmental delays may be located adjacent to subband q24.1. Variation in the deleted parts of 11q resulted in different clinical features in each group.

Since the accident at the Chernobyl Nuclear Power Plant, it has become well known that radiocesium tends to concentrate in wild mushrooms. During the recovery process after the accident at the Fukushima Daiichi Nuclear Power Station (FDNPS), it is important to perform follow-up measurements of the activity concentrations of radiocesium in mushrooms. We evaluated the activity concentrations of the detected artificial radionuclides (radiocesium) in wild mushrooms collected from Kawauchi village, which is within 30 km of the FDNPS, in 2015, four years after the accident. We found that the radiocesium was determined in 147 of 159 mushroom samples (92.4%). Based on the average mushroom consumption of Japanese citizens (6.28 kg per year), we calculated committed effective doses ranging from <0.001 to 0.6 mSv. Although committed effective doses are relatively limited, even if residents have consumed mushrooms several times, continuous monitoring of the radiocesium in mushrooms in Fukushima is needed for sustained recovery from the nuclear disaster.

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