Publications by authors named "Daichi Yamazaki"
Article Synopsis
- The study investigates two cases of extremely low HDL cholesterol levels linked to mutations in the ABCA1 gene, which is important for cholesterol transport, particularly in Tangier disease.
- In the first case, a 20-year-old woman with multiple health issues showed mutations leading to decreased cholesterol efflux and ABCA1 protein levels, while also having another condition called Krabbe disease.
- The second case involved a 51-year-old woman with similar low HDL levels and different mutations confirming Tangier disease, highlighting the complexity of mutations and their pathogenic mechanisms.
Metabolism is one of the vital functions of cells and living organisms, and the systems to sense and respond to the metabolic alterations play pivotal roles in a plethora of biological processes, including cell proliferative activities, immune cell functions, aging processes, and neuronal functions. Recently, we have reported that a transcriptional cofactor, C-terminal binding protein 2 (CtBP2), serves as a critical metabolite sensor in this context. CtBP2 has a structural pocket called Rossmann fold to accommodate metabolites, and it has been reported to be activated upon binding to NADH/NAD.
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- In the early stages of obesity, insulin secretion increases as a protective measure to keep glucose levels stable, but this can’t last forever, leading to the failure of β cells and the onset of diabetes.
- The protein CtBP2 plays a vital role in regulating insulin gene expression in β cells by interacting with another factor, NEUROD1, which helps to open up chromatin at the insulin gene promoter.
- Reduced levels of CtBP2 in pancreatic islets are observed in both mouse models and humans with obesity, and mice lacking CtBP2 specifically in β cells show glucose intolerance and impaired insulin secretion, indicating its importance in maintaining β cell health and offering potential targets for obesity-related treatments.
Article Synopsis
- Maintaining the balance of metabolism is really important, but too much food can mess it up, especially in obesity.
- Researchers found out how two important proteins, PPARα and CtBP2, interact in a way that can slow down fat processing when there's extra fat in the body.
- In obese people, this interaction gets stronger, making it harder for the body to break down fat, which could lead to new treatments for obesity-related diseases.
We report a rare case of takotsubo cardiomyopathy caused by subacute thyroiditis in a man in his 50s. He went to the doctor with complaints of loss of appetite, diarrhoea, chills and general malaise. He had consciousness disturbance, thyrotoxicosis and thyroid-stimulating hormone (TSH) suppression.
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- - This study involves a 47-year-old Japanese woman with inherited non-alcoholic steatohepatitis (NASH) and severe dyslipidemia, who showed improvement with SGLT2 inhibitor treatment.
- - Whole-exome sequencing revealed several mutations, including the known PNPLA3 I148M mutation, along with additional mutations in LGALS3, PEMT, and a novel mutation in MUL1 that may affect mitochondrial function.
- - The findings suggest that multiple genetic factors contribute to NASH and dyslipidemia, and that the efficacy of SGLT2 inhibitors may vary based on individual genetic backgrounds.
A case of early-onset diabetes with impaired insulin secretion carrying a PAX6 gene Gln135* mutation.
Endocrinol Diabetes Metab Case Rep
August 2022
Summary: A paired homeodomain transcription factor, PAX6 (paired-box 6), is essential for the development and differentiation of pancreatic endocrine cells as well as ocular cells. Despite the impairment of insulin secretion observed in PAX6-deficient mice, evidence implicating causal association between PAX6 gene mutations and monogenic forms of human diabetes is limited. We herein describe a 33-year-old Japanese woman with congenital aniridia who was referred to our hospital because of her uncontrolled diabetes with elevated hemoglobin A1c (13.
View Article and Find Full Text PDFWe report results of a study on steric effects appearing in the scattering of an oriented CH(3)Cl molecular beam from Si(111) at surface temperatures > or = 300 K. Data presented here show that the scattered CH(3)Cl beam intensity measured at fixed scattering angles clearly depends on the initial molecular (CH(3)Cl) orientation toward the Si surface. The scattered CH(3)Cl beam intensity for the CH(3)-end collision is larger than that for the Cl-end collision, suggesting that strong anisotropy of the interaction potential induces the molecular-orientation-dependent energy dissipation during transient trapping into a shallow potential well.
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