Independent genetic strategies define the scope and limits of CDKL5 deficiency disorder reversal.

 0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Yugong Ho, Dayne Martinez, Erin Nugent, Xie Song, Zachary Spritzer, Barbara Terzic, Zijie Xia, Bing Xu, Yanjie Zhang, Zhaolan Zhou

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Cell reports. Medicine , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 679078

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a neurodevelopmental syndrome caused by mutations in the X-linked CDKL5 gene. The early onset of CDD suggests that CDKL5 is essential during development, but post-developmental re-expression rescues multiple CDD-related phenotypes in hemizygous male mice. Since most patients are heterozygous females, studies in clinically relevant female models are essential. Here, we systematically compare phenotype reversal across age and sex using two independent mouse models of CDD. We find that early re-activation of endogenous Cdkl5 in heterozygous females reverses most phenotypes, except working memory. Later re-expression improves several traits but has limited effects on cognitive function. Seizure prevention is more effective with early intervention in heterozygous females but becomes limited after seizure onset. These findings demonstrate the robust potential of CDKL5 re-expression to reverse CDD-related phenotypes in both sexes while underscoring the critical impact of age and disease stage in designing clinical trials.
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