The utility of MODY Probability Calculator in probands of families with early-onset autosomal dominant diabetes from Poland.

Background: Maturity-onset diabetes of the young (MODY) accounts for 1-2% of all diabetes cases. Unfortunately, circa 90% of MODY cases are misdiagnosed as type 1 or type 2 diabetes. A proper genetic diagnosis based on automatic sequencing is crucial for the use of a tailored treatment.

Quality of life assessment in patients with HNF1A-MODY and GCK-MODY.

Aim: The impact of maturity onset diabetes of the young (MODY) on quality of life (QoL) has never been examined. We assessed disease impact on QoL among patients with HNF1A-MODY and GCK mutation carrier status.

Methods: The study included 80 patients with HNF1A-MODY and 89 GCK gene mutation carriers.

Circulating ghrelin level is higher in HNF1A-MODY and GCK-MODY than in polygenic forms of diabetes mellitus.

Ghrelin is a hormone that regulates appetite. It is likely to be involved in the pathophysiology of varying forms of diabetes. In animal studies, the ghrelin expression was regulated by the hepatocyte nuclear factor 1 alpha (HNF1A).

Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2.

Activating mutations in the KCNJ11 gene encoding the Kir6.2 subunit of ATP-sensitive potassium channel have been described in patients with permanent neonatal diabetes mellitus (PNDM). The main pathophysiological feature of PNDM associated with Kir6.