Mitochondrial DNA Sequencing by aMPS in patients with Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a tumor suppressor syndrome characterized by high phenotypic heterogeneity. TSC is caused by loss of function mutations in either the TSC1 or TSC2 gene resulting in aberrant mTORC1 activation. Using robust and deep coverage analytical methods, this study investigated the contribution of the mitochondrial genome (mtDNA) to TSC pathogenesis. Buccal swab samples from patients with TSC and TSC-associated lesions, including renal angiomyolipomas and renal cell carcinomas, were sequenced. (Published in Giannikou et al. Frontiers in Genetics, in press)