Publications by authors named "Nami Ohuchi"
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.
Article Synopsis
- - 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.
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