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@ARTICLE{Khadjeh:151063,
author = {Khadjeh, Sara and Hindmarsh, Vanessa and Weber, Frederike
and Cyganek, Lukas and Vidal, Ramon O. and Torkieh, Setare
and Streckfuss-Bömeke, Katrin and Lbik, Dawid and Tiburcy,
Malte and Mohamed, Belal A. and Bonn, Stefan and Toischer,
Karl and Hasenfuss, Gerd},
title = {{CRISPLD}1: a novel conserved target in the transition to
human heart failure},
journal = {Basic research in cardiology},
volume = {115},
number = {3},
issn = {0300-8428},
address = {Berlin},
publisher = {Springer},
reportid = {DZNE-2020-01048},
pages = {27},
year = {2020},
abstract = {Heart failure is a major health problem worldwide with a
significant morbidity and mortality rate. Although studied
extensively in animal models, data from patients at the
compensated disease stage are lacking. We sampled myocardium
biopsies from aortic stenosis patients with compensated
hypertrophy and moderate heart failure and used
transcriptomics to study the transition to failure.
Sequencing and comparative analysis of analogous samples of
mice with transverse aortic constriction identified 25
candidate genes with similar regulation in response to
pressure overload, reflecting highly conserved molecular
processes. The gene cysteine-rich secretory protein LCCL
domain containing 1 (CRISPLD1) is upregulated in the
transition to failure in human and mouse and its function is
unknown. Homology to ion channel regulatory toxins suggests
a role in Ca2+ cycling. CRISPR/Cas9-mediated
loss-of-function leads to dysregulated Ca2+ handling in
human-induced pluripotent stem cell-derived cardiomyocytes.
The downregulation of prohypertrophic, proapoptotic and
Ca2+-signaling pathways upon CRISPLD1-KO and its
upregulation in the transition to failure implicates a
contribution to adverse remodeling. These findings provide
new pathophysiological data on Ca2+ regulation in the
transition to failure and novel candidate genes with
promising potential for therapeutic interventions.},
keywords = {Amino Acid Sequence / Animals / Aortic Valve Stenosis:
complications / Aortic Valve Stenosis: genetics / Aortic
Valve Stenosis: metabolism / Apoptosis / Biopsy / Calcium:
metabolism / Calcium Signaling / Cell Adhesion Molecules:
chemistry / Cell Adhesion Molecules: deficiency / Cell
Adhesion Molecules: genetics / Cell Adhesion Molecules:
metabolism / Conserved Sequence / Down-Regulation /
Evolution, Molecular / Female / Heart Failure: complications
/ Heart Failure: genetics / Heart Failure: metabolism /
Humans / Induced Pluripotent Stem Cells: cytology / Male /
Mice / Myocardium: metabolism / Myocytes, Cardiac: cytology
/ Myocytes, Cardiac: metabolism / Transcriptome /
Transforming Growth Factor beta: metabolism},
cin = {AG Bonn 1},
ddc = {610},
cid = {I:(DE-2719)1410003},
pnm = {342 - Disease Mechanisms and Model Systems (POF3-342)},
pid = {G:(DE-HGF)POF3-342},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC7060963},
pubmed = {pmid:32146539},
doi = {10.1007/s00395-020-0784-4},
url = {https://pub.dzne.de/record/151063},
}