Microvillus inclusion disease-causing MYO5B point mutations exert differential effects on motor function.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Deanna M Bowman, James R Goldenring, Elizabeth H Manning, Leslie M Meenderink, Kyra S Thomas, Matthew J Tyska

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : The Journal of biological chemistry , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 233256

Microvillus Inclusion Disease (MVID) is a rare congenital diarrheal disorder typically caused by loss of function mutations in the unconventional myosin, Myosin 5b (MYO5B), which leads to the mis-trafficking of apical components in enterocytes. MVID can manifest in two phenotypes: in both the intestine and liver or the liver alone. Although previous studies seeking to understand MVID disease pathology used MYO5B knockout models, many patients have point mutations and thus express a dysfunctional MYO5B. How these point mutations lead to a broad spectrum of disease severity and the development of two distinct disease phenotypes is still not known. Here, we investigate the effect of MVID patient mutations on the function of the MYO5B motor domain, independent of cargo binding, using confocal imaging and fluorescence recovery after photobleaching. Patient mutations demonstrated a range of effects in these assays, from rigor-like behavior to loss of actin binding. Additionally, analysis of FRAP turnover kinetics suggests that some mutations negatively impact the ability of MYO5B to stay bound to actin. Collectively, our findings indicate that patient mutations affect the MYO5B motor domain in diverse ways, consistent with the spectrum of phenotypes observed in patients.
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