Figure 1.

Expression of Twinkle adPEO mutations in HEK293 Flp-In™ T-REx™ cells. (A) Schematic presentation of the human Twinkle protein and localization of the adPEO-related mutations investigated in this study. Most mutations are located at the end of the N-terminal domain or in the linker region of Twinkle, only the W474C point mutation lies within the helicase domain. (B) Expression levels of adPEO Twinkle variants. Expression was induced for three days with the indicated amounts of doxycycline (DC) and protein expression was analyzed by western blot analysis against the myc-tagged Twinkle variants. At 1 ng/ml DC no increase in transgene expression could be observed, although mild effects on mtDNA replication were already detectable (data not shown). Maximal expression was reached with 10 ng/ml DC.