Fig. 2.

GABA-T enzymatic activity and mtDNA copy number are diminished in cells expressing ABAT deficiency patient variants. a. Cells cultured in the presence of vigabatrin, the irreversible inhibitor of ABAT, show deficits in GABA-T activity and mtDNA copy number that follow a dose-response. b. Immunostaining for ABAT protein levels in cells transformed with non-targeting shRNA (shNT) and shRNA targeting ABAT (shABAT) show ABAT protein levels 19% of control in cells transformed with shABAT. c. GABA-T enzymatic activity and mtDNA copy number was measrured in cells transformed with shNT, shABAT, eGFP, open reading frame for wild-type ABAT (ABAT WT), and the mutations identified in ABAT deficiency patients. All experiments conducted in T98G cells