Monday, September 30, 2019

Review highlights Drosophila research contribution to understanding mTOR and tuberous sclerosis

Franz DN, Krueger DA. mTOR inhibitor therapy as a disease modifying therapy for tuberous sclerosis complex. Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):365-373. doi: 10.1002/ajmg.c.31655. Review. PubMed PMID: 30307123.

Abstract: "Between 1993 and 2003, through experiments involving Drosophila sp., cancer biologists identified the protein kinase known as the mammalian target of rapamycin, its pathway, and its relationship to the genes responsible for tuberous sclerosis. Thereafter, clinical research has resulted in regulatory approval of mTOR inhibitors for four distinct manifestations of the disease: giant cell astrocytoma, angiomyolipoma, lymphangioleiomyomatosis, and epilepsy. These developments are summarized and the practical use of mTOR inhibitors to improve the lives of patients with tuberous sclerosis reviewed."

No comments:

Post a Comment