A gain-of-function variant in RICTOR predisposes to human obesity.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Yufei Chen, Aibo Gao, Weiqiong Gu, Jie Hong, Ruixin Liu, Jieli Lu, Mengshan Ni, Jiqiu Wang, Weiqing Wang, Shaoqian Zhao, Yinmeng Zhu

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: China : Journal of genetics and genomics = Yi chuan xue bao , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 488571

mTORC1/2 play central roles as signaling hubs of cell growth and metabolism and are therapeutic targets for several diseases. However, the human genetic evidence linking mutations of mTORC1/2 to obesity remains elusive. Using whole-exome sequencing of 1,944 cases with severe obesity and 2,161 healthy lean controls, we identify a rare RICTOR p.I116V variant enriched in 9 unrelated cases. In Rictor null mouse embryonic fibroblasts, overexpression of the RICTOR p.I116V mutant increases phosphorylation of AKT, a canonical mTORC2 substrate, compared to wild-type RICTOR, indicating a gain-of-function change. Consistent with the human obesity phenotype, the knock-in mice carrying homogenous Rictor p.I116V variants gain more body weight under a high-fat diet. Additionally, the stromal vascular fraction cells derived from inguinal white adipose tissue of knock-in mice display an enhanced capacity for adipocyte differentiation via AKT activity. These findings illustrate that the rare gain-of-function RICTOR p.I116V mutation activates AKT signaling, promotes adipogenesis, and contributes to obesity in humans.
Tạo bộ sưu tập với mã QR

THƯ VIỆN - TRƯỜNG ĐẠI HỌC CÔNG NGHỆ TP.HCM

ĐT: (028) 36225755 | Email: tt.thuvien@hutech.edu.vn

Copyright @2024 THƯ VIỆN HUTECH