Metabolic remodeling in hiPSC-derived myofibers carrying the m.3243A>G mutation.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Katiuscia Bianchi, Anitta R Chacko, Haoyu Chi, Chih-Yao Chung, Michael R Duchen, Henry Houlden, Monika J Madej, Valle Morales, Benjamin O'Callaghan, Robert D S Pitceathly, Hannah Rouse, Preethi Sheshadri, Francesco Saverio Tedesco, Gabriel E Valdebenito

Ngôn ngữ: eng

Ký hiệu phân loại: 133.594 Types or schools of astrology originating in or associated with a

Thông tin xuất bản: United States : Stem cell reports , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 708293

 Mutations in mitochondrial DNA cause severe multisystem disease frequently associated with muscle weakness. The m.3243A>
 G mutation is the major cause of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). Experimental models that recapitulate the disease phenotype in vitro for disease modeling or drug screening are very limited. We have therefore generated hiPSC-derived muscle fibers with variable heteroplasmic mtDNA mutation load without significantly affecting muscle differentiation potential. The cells exhibit physiological characteristics of muscle fibers and show a well-organized myofibrillar structure. In cells carrying the m.3243A>
 G mutation, the mitochondrial membrane potential and oxygen consumption were reduced in relation to the mutant load. We have shown through proteomic, phosphoproteomic, and metabolomic analyses that the m.3243A>
 G mutation variably affects the cell phenotype in relation to the mutant load. This variation is reflected by an increase in the NADH/NAD
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