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. 2017 Dec 12;11(6):636–647. doi: 10.1080/19336950.2017.1393131

Figure 1.

Figure 1.

(A) The family pedigree of the index patient. Each family member that carries the A28V hKir6.2 mutation exhibits some degree of PHHI. (B to D) Whole-cell recording of KATP currents in HEK cells. (B) A representative wild-type KATP current (blue trace) was elicited by a voltage ramp pulse (0.5V/s). As predicted, the KATP current was augmented by 300 µM KATP channel opener diazoxide (red trace) and inhibited by 300 µM KATP channel blocker tolbutamide (black trace). (C) In contrast, HEK cells transfected with A28V hKir6.2 exhibited minuscule KATP current (blue trace) and neither 300 µM KATP channel opener diazoxide (red trace) or 300 µM KATP channel blocker tolbutamide (black trace) had an effect on the A28V KATP currents. (D) Summary of wild-type and A28V KATP currents in HEK cells. Wild-type KATP currents (n = 5) were significantly larger than A28V KATP currents (n = 9), as determined by Mann-Whitney U-test (*p < 0.05).