The catalytic subunit a of protein kinase A (PRKACA) was also differentially expressed following exposure to isoproterenol in this individual.
ATP1A1, ATPase [Na.sup.+]/[K.sup.+] transporting subunit alpha 1; ATP1B1, ATPase [Na.sup.+]/[K.sup.+] transporting subunit beta 1; CALM3, calmodulin 3; CAMK2B, Calcium/calmodulin-dependent protein kinase type II beta chain; Cmax, maximum concentration in blood plasma; CV, coefficient of variation; DMSO, dimethyl sulfoxide; hERG, human ethera-go-go-related gene; ITPR2, inositol 1,4,5-trisphosphate receptor, type 2; iPSC, induced pluripotent stem cell; IVIVE, in vitro-to-in vivo extrapolation; PLN, phospholamban; KCNK1, potassium channel subfamily K member 1; PRKACA, catalytic subunit a of protein kinase A; RED, rapid equilibrium dialysis; RFU, relative fluorescence units
In 2014, Honeyman et al (24) described a recurrent DNAJB1-PRKACA fusion transcript in fibrolamellar carcinoma that occurred as a result of a microdeletion on chromosome 19, leading to a fusion between the DNAJB1 gene promoter and the
PRKACA gene, which encodes a catalytic subunit of protein kinase A.
While other proteins (GSK3B, POU5F1, MAPK14, CREB1, SOX2, KLF4,
PRKACA, MAPK10, STAT1, ACTB, TUBB3, MYC, GAPDH, AKT1, and CTNNB1) are related with process of aging, neuronal diseases, cardiovascular diseases, abnormal brain development, mental retardation, schizophrenia, and mycobacterial and viral infections [60-62].
Bidirectional Sanger sequencing was performed for targeted mutation detection in the KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, and PRKACA genes using DNA extracted from the tumor tissues of the 22 A/CPA patients.
However, no PRKACA hotspot mutations (L206R or C200_G201 ins V) were detected in these patient samples.
Both contained G151R mutations in the KCNJ5 gene, but no PRKACA mutations were observed.
Similarly, for CPAs, some somatic mutations, such as in the catalytic subunit ofthe protein kinase A (PRKACA) gene, the stimulatory G-protein a-subunit (GNAS) gene, and the beta-catenin (CTNNB1) gene, have been reported to cause an excess secretion of cortisol.
Tang et al., "Clinical characteristics of PRKACA mutations in Chinese patients with adrenal lesions: a single-centre study," Clinical Endocrinology, vol.
On the other hand, at the same time-point of the experiment, expression of 18 genes was downregulated, including cyclin G2 (Ccng2); mitogen activated protein kinase 13 (Mapk13); protein kinase alpha (
Prkaca) and bone morphogenetic protein 2 (Bmp2).