AMPK Methods and Protocols

Fig. 2Transgenic mice with cardiac-restricted overexpression of mutantPRKAG2recapitulate the severe end of the human PRKAG2 card ...

Table 2 Murine models of PRKAG2 cardiomyopathy Model and PRKAG2 mutation Main observations Measured effect on AMPK activity Refe ...

Table 2 (continued) Model and PRKAG2 mutation Main observations Measured effect on AMPK activity Reference cardiac glycogen accu ...

of the TGR302Qmodel, atrial electrical stimulation induced ortho- dromic AV reentrant tachycardia, consistent with anterograde A ...

The reversibility of ventricular pre-excitation and other mani- festations ofPRKAG2disease has been investigated in a series of ...

skeletal muscle glycogen content in association with aγ3 mutation homologous to a pathogenicγ2-variant [19]. These observations ...

Fig. 5Genetic targeting of GYS1 to abrogate glucose-6-phosphate induced activation in transgenic mice expressing mutantPRKAG2ame ...

inactivation. Confirming the importance of this mechanistically, TGN488Imice crossed with mice overexpressing FoxO1 in the heart ...

adenyl nucleotides. Structural support for this emerged from the mapping of pathogenicγ2-mutations onto equivalent residues in a ...

An important observation in this regard was the apparent asso- ciation of age with AMPK activity, peaking early on (~2 weeks) bu ...

activity assays from both rat neonatal cardiomyocytes acutely trans- duced with Arg302Gln γ2-expressing adenovirus and cardiac e ...

progressive cardiac conduction system disease, cardiomyocyte gly- cogen excess, and propensity to SCD. Individuals bearing aPRKA ...

In younger patients (below 35 years), SCD usually arises due to very rapid anterograde conduction of a supraventricular arrhythm ...

association with atrial fibrillation has also been reported in one case series as the most frequent cause of death [24]. The pre ...

cardiomyopathies, such as dilated cardiomyopathy due to muta- tions of theLMNAgene, or cardiomyopathies associated with hypertro ...

5.2.4 Ventricular Pre-excitation Ventricular pre-excitation is an extremely common, although not invariable, finding inPRKAG2car ...

[69–71], although nodoventricular fibers have also been reported (Fig.11)[ 28]. Fasciculoventricular fibers are not a substrate ...

phase with left ventricular dysfunction appears lower with the two most commonly describedPRKAG2mutations (Arg302Gln and Asn488I ...

series [24]. A greater propensity for carriers of the Asn488Ile mutation to express LVH has been noted than those with the Arg30 ...

(asymmetric septal hypertrophy) (Fig.12) and can vary within families [24, 25, 56]. Massive septal hypertrophy (44 mm thick- nes ...