Publications by authors named "Katsuya Aizu"
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
J Clin Endocrinol Metab
February 2024
Context: Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient steroid hormones. E3 ubiquitin protein ligase zinc and ring finger 3 (ZNRF3) is a negative regulator of Wnt/β-catenin signaling. R-spondin 1 (RSPO1) enhances Wnt/β-catenin signaling via binding and removal of ZNRF3 from the cell surface.
View Article and Find Full Text PDFAims: Monogenic diabetes is clinically heterogeneous and differs from common forms of diabetes (type 1 and 2). We aimed to investigate the clinical usefulness of a comprehensive genetic testing system, comprised of targeted next-generation sequencing (NGS) with phenotype-driven bioinformatics analysis in patients with monogenic diabetes, which uses patient genotypic and phenotypic data to prioritize potentially causal variants.
Methods: We performed targeted NGS of 383 genes associated with monogenic diabetes or common forms of diabetes in 13 Japanese patients with suspected (n = 10) or previously diagnosed (n = 3) monogenic diabetes or severe insulin resistance.
Aims/introduction: Glucokinase-maturity-onset diabetes of the young (GCK-MODY; also known as MODY2) is a benign hyperglycemic condition, which generally does not require medical interventions. The only known exception is increased birthweight and related perinatal complications in unaffected offspring of affected women. As previous data were obtained mostly from white Europeans, the present study analyzed the pregnancy outcomes of Japanese women with GCK-MODY to better formulate the management plan for this population.
View Article and Find Full Text PDFThe insulin receptor () gene was analyzed in four patients with severe insulin resistance, revealing five novel mutations and a deletion that removed exon 2. A patient with Donohue syndrome (DS) had a novel p.V657F mutation in the second fibronectin type III domain (FnIII-2), which contains the α-β cleavage site and part of the insulin-binding site.
View Article and Find Full Text PDFArticle Synopsis
- The study evaluates the long-term effectiveness of continuous subcutaneous octreotide infusion in treating congenital hyperinsulinism associated with specific gene mutations (KCNJ11 and ABCC8) in 15 Japanese patients who were unresponsive to diazoxide.
- Patients were monitored using genetic analysis and 18F-DOPA PET scans to assess the location of lesions, receiving octreotide via insulin pumps to maintain blood glucose levels.
- The results showed that all patients benefited from the treatment, with dosage variations based on mutation type, and it presented a viable alternative to surgery, especially for those with monoallelic mutations, with minimal adverse effects noted.
Background: In Asians, mutations in the known maturity-onset diabetes of the young (MODY) genes have been identified in only <15% of patients. These results were obtained mostly through studies on adult patients.
Objective: To investigate the molecular basis of Japanese patients with pediatric-onset MODY-type diabetes.