Publications by authors named "Alla Ovsyannikova"
During differential diagnosis of diabetes mellitus, the greatest difficulties are encountered with young patients because various types of diabetes can manifest themselves in this age group (type 1, type 2, and monogenic types of diabetes mellitus, including maturity-onset diabetes of the young (MODY)). The MODY phenotype is associated with gene mutations leading to pancreatic-β-cell dysfunction. Using next-generation sequencing technology, targeted sequencing of coding regions and adjacent splicing sites of MODY-associated genes (, , , , , , , , , , , , , and ) was carried out in 285 probands.
View Article and Find Full Text PDFThe first all-Russia conference with international participation, "Basic Research in Endocrinology: A Modern Strategy for the Development and Technologies of Personalized Medicine", was held in Novosibirsk on 26-27 November 2020. [..
View Article and Find Full Text PDFArticle Synopsis
- - Maturity onset diabetes of the young (MODY) is a genetic form of diabetes that appears in young individuals, caused by defects in pancreatic beta-cell function, with 14 known subtypes linked to specific gene mutations.
- - The most common MODY subtypes are linked to mutations in genes such as HNF1A, GCK, and HNF4A, with up to 70% of cases arising from HNF1A and HNF4A mutations.
- - In a study of 178 patients in Western Siberia, novel mutations were identified in several MODY genes among 38 individuals, highlighting the genetic diversity and complexity of this condition.
Article Synopsis
- * Researchers analyzed a group of 151 patients with MODY and found 13 variants; one specific variant, rs11544593, was significantly more common in the MODY patients compared to a control group.
- * The study suggests that the rs11544593 variant may affect blood glucose levels and could have implications for understanding carbohydrate metabolism issues in MODY patients.
Article Synopsis
- This article details a case of MODY12 caused by a mutation in the ABCC8 gene, presenting in a 27-year-old man with diabetes, epilepsy, and complications like retinopathy and hypoglycemia.
- The patient was successfully treated with gliclazide and SGLT2 inhibitors after insulin therapy was stopped, leading to improved blood sugar control without further hypoglycemic episodes.