A novel SCN3B in-frame codon deletion in a Brugada syndrome patient: Implications for disrupted Na

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Christopher A Beaudoin, Samir W Hamaia, Christopher L-H Huang, Antony P Jackson, Greg J Mellor, Samantha C Salvage, Sahib S Sarbjit-Singh

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Journal of molecular and cellular cardiology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 736840

INTRODUCTION: Brugada Syndrome (BrS) is an inherited arrhythmia syndrome characterised by ST-segment elevation in the right precordial ECG leads and is associated with an increased risk of sudden cardiac death. We identify and characterise a novel SCN3B variant encoding the regulatory β3-subunit of the cardiac voltage-gated sodium channel, Na METHODS AND RESULTS: A 54-year-old Caucasian male presented with palpitations and dizziness. An ECG identified a spontaneous type 1 BrS pattern and review of his medical records revealed a prior type 1 BrS ECG. Next generation sequencing of a BrS risk panel of genes identified a novel SCN3B deletion (c. c412-414, p.T138Del) yielding a single amino acid deletion. No other pathogenic variants were identified. Using site-directed mutagenesis we made the β3-ΔT138 variant and examined structural and functional effects in a heterologous system. Computational predictions together with circular dichroism spectroscopy showed highly localised structural perturbations with minimal effect on the gross protein architecture. Biotinylation, co-immunoprecipitation and surface cross-linking experiments identified normal β3 surface expression and interaction with Na CONCLUSION: A novel BrS associated SCN3B deletion introduced minimally disruptive structural perturbations to the regulatory β3-subunit of Na
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