Nuclear respiratory factor 1 promotes cell survival in multiple myeloma under proteasome inhibition therapy

T Tiziana Bruno (1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) M Maria Chiara Cappelletto (2Microbiology and Virology Unit, Clinic and Dermatology Research Department, San Gallicano Dermatological Institute IRCCS, Rome, Italy) C Clelia Cortile (1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) S Stefano Di Giovenale (1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) B Bruno Amadio (1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) F Francesca De Nicola (1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) I Italia Falcone (1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) S Stefano Giuliani B Belinda Palermo (5Tumor Immunology and Immunotherapy Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) V Valeria Catena (1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) L Ludovica Ciuffreda (1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) F Fulvia Cerruti (6Department of Veterinary Sciences, University of Turin, Turin, Italy) P Paolo Cascio (6Department of Veterinary Sciences, University of Turin, Turin, Italy) R Roberta Merola (7Clinical Pathology Unit, Department of Research, Advanced Diagnostics, and Technological Innovation, Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) S Serena Masi (7Clinical Pathology Unit, Department of Research, Advanced Diagnostics, and Technological Innovation, Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy) V Valentina De Pascale (8Translational Oncology Research Unit, Department of Research and Advanced Technologies, IRCCS Regina Elena National Cancer Institute, Rome, Italy) O Ombretta Annibali (Policlinico Universitario Campus Bio-Medico, Dipartimento di Medicina e Chirurgia Università Campus Bio-Medico, Rome) S Silvia Ferraro (10Hematology Unit, Department of Hematology, St. Eugenio Hospital, Rome, Italy) S Svitlana Gumenyuk (11Hematology and Stem Cell Transplant Unit, Clinical and Research Oncology Department, IRCCS Regina Elena National Cancer Institute, Rome, Italy) F Francesco Pisani (Laboratoire de Physique et d'′ Etude des Matériaux, LPEM, UMR 8213, ESPCI Paris, Université, PSL, CNRS, Sorbonne Université 2 , F-75005 Paris,) F Francesco Marchesi (11Hematology and Stem Cell Transplant Unit, Clinical and Research Oncology Department, IRCCS Regina Elena National Cancer Institute, Rome, Italy) A Andrea Mengarelli (11Hematology and Stem Cell Transplant Unit, Clinical and Research Oncology Department, IRCCS Regina Elena National Cancer Institute, Rome, Italy) M Maurizio Fanciulli (Struttura di Area Funzionale di Ricerca Unit (SAFU), Department of Research, Advanced Diagnostics, and Technological Innovation, Translational Research Area, Istituto di Ricovero e Cura a Carattere Scientifico Regina Elena National Cancer Institute) G Giacomo Corleone (Struttura di Area Funzionale di Ricerca Unit (SAFU), Department of Research, Advanced Diagnostics, and Technological Innovation, Translational Research Area, Istituto di Ricovero e Cura a Carattere Scientifico Regina Elena National Cancer Institute)

Abstract

Abstract Multiple myeloma (MM) continues to be an incurable malignancy, even with recent therapeutic advancements. Although epigenetic dysregulation at cis-regulatory elements is known to drive disease progression, the complete molecular mechanisms underlying these alterations are poorly understood. Using Assay for Transposase-Accessible Chromatin with high-throughput sequencing analysis combined with the computational footprinting of CD138+ cells from 55 patients with MM, we depicted the dynamic changes in chromatin accessibility during disease progression and identified nuclear respiratory factor 1 (NRF1) as a master regulator of vital MM survival pathways. We demonstrated that NRF1 maintains proteasome homeostasis by orchestrating the ubiquitination pathway, which is essential for MM cell survival. We discovered a novel enhancer element that physically interacts with the NRF1 promoter, sustaining its expression. Targeting this enhancer RNA reduced NRF1 levels and increased tumor cell sensitivity to bortezomib (BTZ), suggesting therapeutic potential. In xenograft models, we showed that antisense oligonucleotides targeting the NRF1 enhancer, either alone or combined with BTZ, significantly decreased tumor burden and improved survival. Our findings reveal a previously unknown NRF1-dependent mechanism regulating MM cell survival and present a promising therapeutic approach through the manipulation of its regulatory network.

Article Details

Journal Blood
Volume / Issue Vol. 146, Issue 24
Published December 11, 2025
Pages 2945-2962
ISSN 0006-4971
Publisher Elsevier BV

Journal Info

Blood

Elsevier BV

ISSN: 0006-4971 Health Sciences

Authors (24)

T

Tiziana Bruno

1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

M

Maria Chiara Cappelletto

2Microbiology and Virology Unit, Clinic and Dermatology Research Department, San Gallicano Dermatological Institute IRCCS, Rome, Italy

C

Clelia Cortile

1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

S

Stefano Di Giovenale

1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

B

Bruno Amadio

1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

F

Francesca De Nicola

1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

I

Italia Falcone

1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

S

Stefano Giuliani

B

Belinda Palermo

5Tumor Immunology and Immunotherapy Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

V

Valeria Catena

1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

L

Ludovica Ciuffreda

1Gene Expression and Cancer Models Unit, Department of Research and Advanced Technologies Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

F

Fulvia Cerruti

6Department of Veterinary Sciences, University of Turin, Turin, Italy

P

Paolo Cascio

6Department of Veterinary Sciences, University of Turin, Turin, Italy

R

Roberta Merola

7Clinical Pathology Unit, Department of Research, Advanced Diagnostics, and Technological Innovation, Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

S

Serena Masi

7Clinical Pathology Unit, Department of Research, Advanced Diagnostics, and Technological Innovation, Translational Research Area, IRCCS Regina Elena National Cancer Institute, Rome, Italy

V

Valentina De Pascale

8Translational Oncology Research Unit, Department of Research and Advanced Technologies, IRCCS Regina Elena National Cancer Institute, Rome, Italy

O

Ombretta Annibali

Policlinico Universitario Campus Bio-Medico, Dipartimento di Medicina e Chirurgia Università Campus Bio-Medico, Rome

S

Silvia Ferraro

10Hematology Unit, Department of Hematology, St. Eugenio Hospital, Rome, Italy

S

Svitlana Gumenyuk

11Hematology and Stem Cell Transplant Unit, Clinical and Research Oncology Department, IRCCS Regina Elena National Cancer Institute, Rome, Italy

F

Francesco Pisani

Laboratoire de Physique et d'′ Etude des Matériaux, LPEM, UMR 8213, ESPCI Paris, Université, PSL, CNRS, Sorbonne Université 2 , F-75005 Paris,

F

Francesco Marchesi

11Hematology and Stem Cell Transplant Unit, Clinical and Research Oncology Department, IRCCS Regina Elena National Cancer Institute, Rome, Italy

A

Andrea Mengarelli

11Hematology and Stem Cell Transplant Unit, Clinical and Research Oncology Department, IRCCS Regina Elena National Cancer Institute, Rome, Italy

M

Maurizio Fanciulli

Struttura di Area Funzionale di Ricerca Unit (SAFU), Department of Research, Advanced Diagnostics, and Technological Innovation, Translational Research Area, Istituto di Ricovero e Cura a Carattere Scientifico Regina Elena National Cancer Institute

G

Giacomo Corleone

Struttura di Area Funzionale di Ricerca Unit (SAFU), Department of Research, Advanced Diagnostics, and Technological Innovation, Translational Research Area, Istituto di Ricovero e Cura a Carattere Scientifico Regina Elena National Cancer Institute