A5083311099- Pancreatic function and diabetes
- Hearing, Cochlea, Tinnitus, Genetics
- Genetics and Neurodevelopmental Disorders
- Vestibular and auditory disorders
- Metabolism, Diabetes, and Cancer
- Neuroscience of respiration and sleep
Institute of Experimental Endocrinology of the Slovak Academy of Sciences
2023
Abstract Objectives Mitochondrial DNA (mtDNA) mutations account for up to 5% of hereditary hearing loss cases. Most commonly, the m.3243A>G mtDNA variant contributes rare monogenic MIDD (Maternally Inherited Diabetes and Deafness) or MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like episodes) syndromes. Different proportions mutated (heteroplasmy) among affected tissues result in variability clinical manifestation severity phenotype. The aim presented study was establish...
Abstract Aims The aim is to identify people with HNF1A‐MODY among individuals in diabetic cohort solely based on low hs‐CRP serum level and early diabetes onset. Methods In 3537 participants, we analyzed the levels. We HNF1A gene 50 participants (1.4% of cohort) type 1 or 2 who had ≤0.25 mg/L were diagnosed mellitus (DM) at age 8–40 years. functionally characterized two identified missense variants. Results Three a rare variant gene, which classified as likely pathogenic: c.1369_1384dup...