Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca < sup > 2+ < /sup > and Voltage-Activated K < sup > + < /sup > Channel Activity in Human Insulin Secretion

We present the case of a newborn affected by LIWAS carrying the p.(Gly375Arg) variant who manifested diabetes in the first week of life. The description of our case strongly increases the frequency of ND in LIWAS patients and suggests a role of BK inactivation in human insulin secretion. The knowledge on the role of BKC in insulin secretion is very poor. Analyzing the possible mechanisms that could explain the association of LIWAS with ND, we speculate that BK inactivation might impair insulin secretion through the alteration of ion-dependent membrane activities and mitochondrial functions in β-cells, as well as the impaired intra-islet vessel reactivity.PMID:34563042 | DOI:10.3390/cimb43020073

Source: Current Issues in Molecular Biology - September 25, 2021 Category: Molecular Biology Authors: Chiara Mameli Roberta Cazzola Luigina Spaccini Valeria Calcaterra Maddalena Macedoni Paola Azzurra La Verde Enza D'Auria Elvira Verduci Gianluca Lista Gian Vincenzo Zuccotti Source Type: research