Uterine fibroids with mutated fumarate hydratase (I)
Summary:
Analysis of uterine fibroids with mutations in the fumarate hydratase (FH) gene. FH catalyzes the hydration of fumarate in the TCA cycle. Heterozygous germline mutations in FH cause uterine fibroids and renal cell cancer. Results provide insight into the pathogenesis of TCA cycle-related tumors.