Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

ABSTRACT:

Background

Pathogenic variants of GNB5 encoding the β₅ subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia.

Methods

We used echocardiography and telemetric ECG recordings to investigate consequences of Gnb5 loss in mouse.

Results

We delineated a key role of Gnb5 in heart sinus conduction and showed that Gnb5-inhibitory signalling is essential for parasympathetic control of heart rate (HR) and maintenance of the sympathovagal balance. Gnb5^-/- mice were smaller and had a smaller heart than Gnb5^+/+ and Gnb5^+/- , but ex

SUBMITTER: De Nittis P 

PROVIDER: S-EPMC8639930 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature