Publications by authors named "Marinna C Okawa"
Context: Childhood overnutrition is associated with increased growth and bone mineral density (BMD) vs the opposite for undernutrition. The role of insulin receptor (InsR) signaling in these phenotypes is unclear. Rare disease patients with hyperinsulinemia and impaired InsR function (homozygous [-/-] or heterozygous [+/-] INSR pathogenic variants, type B insulin resistance [TBIR]) model increased InsR signaling, while patients with intact InsR function (congenital generalized lipodystrophy, CGL) model decreased InsR signaling.
View Article and Find Full Text PDFArticle Synopsis
- Glucagon signaling is crucial for keeping blood sugar levels stable in mammals, and the ARRDC4 protein plays an important role in this process.
- Research shows that mice without the ARRDC4 protein struggle with glucagon responses and gluconeogenesis, leading to lower blood sugar after fasting.
- ARRDC4 also interacts with the glucagon receptor and its expression is influenced by insulin, highlighting its key role in regulating glucose metabolism and connecting insulin and glucagon pathways in the liver.
Context: Rabson-Mendenhall syndrome (RMS) is caused by biallelic pathogenic variants in the insulin receptor gene (INSR) leading to insulin-resistant diabetes, microvascular complications, and growth hormone resistance with short stature. Small, uncontrolled studies suggest that 1-year treatment with recombinant leptin (metreleptin) improves glycemia in RMS.
Objective: This study aimed to determine effects of long-term metreleptin in RMS on glycemia, anthropometrics, the growth hormone axis, and kidney function.