Predesigned primers for human PPARGC-1 (Hs01016719_m1), D2DR (dopamine 2 receptor, Hs00241436_m1), VEGF (vascular endothelial growth factor, Hs00900055_m1), MyH1 (myosin heavy chain 1, Hs00428600_m1), MyH2
(myosin heavy chain 2, Hs00430042_m1), Desmin (Hs00157258_m1), [alpha]-actinin (Hs00998100_m1), COXIV (cytochrome c oxidase subunit 4,Hs00971639_m1), vWf (Mm00550375_m1), TNF-[alpha] (tumor necrosis factor alpha, Mm00443258_m1), and ACHE (acetyl choline esterase, Hs00241307_m1) were purchased from Life Technologies.
Thus, SREBF1 is a master regulator which controls gene expression within the SREBF1 to FASN region via targeting transcriptional repressors of MPRIP, TCAP, and other muscle-related genes (BECN1, CACNB1, MYH2
, MYH3, and MYH13); one of these repressors BHLHB 2 maps near FASN .
Unfortunately, the known causative genes of myopathy with rimmed vacuoles, such as GNE , MYH2
, VCP , PABPN1 , TTN , TIA1 , and so on were excluded by the whole-exome sequencing.