© 2014 Nature America, Inc. All rights reserved.
ARTICLES
NATURE MEDICINE ADVANCE ONLINE PUBLICATION 1
PH is a severe and debilitating disease characterized by remodeling
of the pulmonary vessels, leading to a progressive increase in pulmo-
nary vascular resistance, increased afterload on the right ventricle
(RV) and, ultimately, right-heart failure
1
. Variants of PH may affect
up to 100 million people worldwide
2
. Although marked progress has
been made in the past decade in the treatment of group I PH, pul-
monary arterial hypertension (PAH)
3–5
, current approaches provide
mainly symptomatic relief. Disease progression is inevitable in most
patients with PAH, and mortality remains unacceptably high
6
. Thus,
the identification of new molecular or signaling pathways that drive
maladaptive inward remodeling of pulmonary arteries that may serve
as therapeutic targets is urgently needed.
The vascular wall of pulmonary arteries is characterized as a pro-
proliferative and anti-apoptotic microenvironment
7,8
. Accordingly,
the upregulation of growth factors
9–11
, as well as metabolic and
mitochondrial abnormalities
12–14
that are reminiscent of cancer,
are present in PAH, and anti-neoplastic drugs have beneficial
effects in preclinical and clinical PAH
9,15,16
. These abnormali-
ties may involve immune or inflammatory cell recruitment
17–19
and increased cytokine or chemokine expression in remodeled
pulmonary vessels
20,21
. Thus, multiple stimuli mediate vascular
remodeling
22–24
and may complicate therapeutic approaches. We
hypothesized that targeting of a central downstream effector on
which various pro-proliferative and inflammatory stimuli con-
verge, such as the FoxO transcription factors, might provide a new
solution for such multifactorial etiology. So far, this strategy has
not been explored in the treatment of PAH.
FoxO transcription factors belong to a family of transcriptional
regulators characterized by a conserved DNA-binding domain termed
the forkhead box
25
. FoxOs, when present in the nucleus and bound
to promoters that contain the FoxO consensus motif, can act as tran-
scriptional activators and repressors. In mammals, four FoxO isoforms
have been identified: FoxO1, FoxO3, FoxO4 and FoxO6 (refs. 26,27).
Although there is some functional redundancy among these isoforms,
genetic loss of individual FoxO isoforms results in specific phenotypes,
suggesting differing roles for each of the isoforms
26
. FoxOs control
various cellular responses
28,29
and have been implicated in vascular
structural maintenance
30–33
. FoxO activity is tightly controlled by
post-translational modifications, such as phosphorylation and ubiqui-
tination. These modifications alter FoxO transcriptional activity, DNA
binding, subcellular localization and protein stability
29,34
. For example,
phosphorylation of FoxO1 at Thr24 and Ser256 creates binding motifs
for the 14-3-3 scaffolding proteins, thereby causing the translocation
of FoxO from the nucleus and its retention in the cytoplasm.
Here we present evidence that among FoxO isoforms, FoxO1 is cen-
trally involved in the hyperproliferative and apoptosis-resistant phe-
notype of PASMCs, the hallmark of PH. We present a new therapeutic
concept focusing on this transcriptional regulator, which we show to
be highly effective in three preclinical models of severe PAH, as well
as in ex vivo–cultured PASMCs isolated from human PAH lungs.
1
Max-Planck-Institute for Heart and Lung Research, Department of Lung Development and Remodeling, member of the German Center for Lung Research (DZL),
Bad Nauheim, Germany.
2
Department of Internal Medicine, Universities of Giessen and Marburg Lung Center (UGMLC), member of the DZL, Justus-Liebig
University, Giessen, Germany.
3
Department of Molecular Cardiology, University Clinic of Giessen and Marburg, Giessen, Germany.
4
Department of Cardiology and
Angiology, Hannover Medical School, Hannover, Germany.
5
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Correspondence should be addressed to S.S.P. (soni.pullamsetti@mpi-bn.mpg.de).
Received 11 June 2013; accepted 18 August 2014; published online 26 October 2014; doi:10.1038/nm.3695
Pro-proliferative and inflammatory signaling converge on
FoxO1 transcription factor in pulmonary hypertension
Rajkumar Savai
1,2
, Hamza M Al-Tamari
1
, Daniel Sedding
3,4
, Baktybek Kojonazarov
2
, Christian Muecke
1
,
Rebecca Teske
3
, Mario R Capecchi
5
, Norbert Weissmann
2
, Friedrich Grimminger
2
, Werner Seeger
1,2
,
Ralph Theo Schermuly
2
& Soni Savai Pullamsetti
1,2
Pulmonary hypertension (PH) is characterized by increased proliferation and apoptosis resistance of pulmonary artery smooth
muscle cells (PASMCs). Forkhead box O (FoxO) transcription factors are key regulators of cellular proliferation. Here we show
that in pulmonary vessels and PASMCs of human and experimental PH lungs, FoxO1 expression is downregulated and FoxO1 is
inactivated via phosphorylation and nuclear exclusion. These findings could be reproduced using ex vivo exposure of PASMCs
to growth factors and inflammatory cytokines. Pharmacological inhibition and genetic ablation of FoxO1 in smooth muscle cells
reproduced PH features in vitro and in vivo. Either pharmacological reconstitution of FoxO1 activity using intravenous or inhaled
paclitaxel, or reconstitution of the transcriptional activity of FoxO1 by gene therapy, restored the physiologically quiescent PASMC
phenotype in vitro, linked to changes in cell cycle control and bone morphogenic protein receptor type 2 (BMPR2) signaling, and
reversed vascular remodeling and right-heart hypertrophy in vivo. Thus, PASMC FoxO1 is a critical integrator of multiple signaling
pathways driving PH, and reconstitution of FoxO1 activity offers a potential therapeutic option for PH.