The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.

Impact of stretch on sarcomere length variability in isolated fully relaxed rat cardiac myocytes.

The contractility of cardiac muscle is greatly affected by preload via the Frank-Starling mechanism (FSM). It is based on preload-dependent activation of sarcomeres-the elementary contractile units in muscle cells. Recent findings show a natural variability in sarcomere length (SL) in resting cardiomyocytes that, moreover, is altered in an actively contracting myocyte.

Impact of stretch on sarcomere length variability in isolated fully relaxed rat cardiac myocytes.

The contractility of cardiac muscle is greatly affected by preload via the Frank-Starling Mechanism (FSM). It is based on the preload-dependent activation of sarcomeres - the elementary contractile units in muscle cells. Recent findings show a natural variability in sarcomere length (SL) in resting cardiomyocytes that, moreover, is altered in an actively contracting myocyte.

Cardiomyocyte sarcomere length variability: Membrane fluorescence versus second harmonic generation myosin imaging.

Sarcomere length (SL) and its variation along the myofibril strongly regulate integrated coordinated myocyte contraction. It is therefore important to obtain individual SL properties. Optical imaging by confocal fluorescence (for example, using ANEPPS) or transmitted light microscopy is often used for this purpose.