Laboratory of Muscle Stem Cells and Gene Regulation

Vittorio Sartorelli, M.D.

Overview

The Laboratory of Muscle Stem Cells & Gene Regulation investigates the epigenetics and metabolic changes in muscle stem cells, muscle-resident cells, and myofibers in adulthood and aging.

Our ultimate goal is to develop dietary and pharmacological interventions that target chromatin, transcriptional, and metabolic pathways in skeletal muscle cells. These interventions are designed to enhance muscle regeneration in muscular dystrophies and support the maintenance of muscle homeostasis and repair throughout adulthood and aging.

Areas of Interest

Specific areas of interest include:

  • Transcriptional control of the regulatory circuits involved in various aspects of adult and aging muscle stem cell biology.
  • The functional relationship between metabolites and epigenetic modifications impacting adult and aging muscle stem cell biology.
  • The role of non-coding RNAs in skeletal muscle biology.

Staff

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Group of 8 researchers standing shoulder to shoulder

Job Vacancy: Postdoctoral positions are immediately available in the Laboratory of Muscle Stem Cells and Gene Regulation (LMSCGR) at NIAMS at the National Institutes of Health, Bethesda, MD, USA. Ambitious and strongly motivated individuals with a solid background in molecular biology (bioinformatics is desirable but not required) are invited to apply.

Former Lab Members

  • Veronica Ciuffoli, PhD, Research Scientist, Stanford University
  • Giulia Riparini, PhD, Senior Scientist, AstraZeneca
  • Mamduh Khateb, PhD, Research Fellow, NCI
  • Anthony Ascoli, MD, Resident Physician, PennMedicine, Philadephia, PA
  • Giuseppina Caretti, PhD, Associate Professor, Department of Genetics, University of Milan, Italy
  • Daphney Clermont, MD MPH, Pediatrician, The Johns Hopkins Hospital, MD
  • Antonio Costanzo, MD, Head and Professor, Dermatology Clinical Unit, Humanitas University, Milan, Italy
  • Stefania Dell’Orso, PhD, Staff Scientist, Director Office of Science and Technology, NIAMS
  • Assia Derfoul, PhD, Biologist, Muscle Disease Unit, LMSCGR, NIAMS-IRP
  • Monica Di Padova, PhD, Assistant Professor, Department of Experimental Medicine, University of L’Aquila, Italy
  • Gabriella Fiore, PhD, Research Associate, Comparative Genomic Center, James Cook University, Townsville, Australia
  • Marcella Fulco, MD, PhD, career transition to biomedical patenting
  • Shanil Haugen, PhD, Assistant Director, US Food and Drug Administration
  • Simona Iezzi, PhD, Staff Scientist, Regina Elena Cancer Center, Rome, Italy
  • Aster Juan, PhD, Scientific Review Officer, CSR, NIH
  • Raj Letchuman, Undergraduate Student, Yale University
  • Christopher Lopez, MD/PhD Student, Stanford University
  • Frederic Lluis Vinas, PhD, Professor, Stamcelinstituut Leuven (SCIL), KU Leuven, Leuven, Belgium
  • Aissa Kaba, MTM, MedTech Scholar, UC Berkeley&UCSF
  • Miroslav Koulnis, PhD, Scientist, Sony Biotechnology, Boston, MA
  • Joseph G. Marx, PhD, F.B.I. Employee
  • Kambiz Mousavi, PhD, Senior Scientist, Moderna Therapeutics, Cambridge, MA
  • Alessandra Pasut, PhD, Postdoctoral Fellow, Center for Cancer Biology, Leuven, Belgium
  • Jelena Perovanovic, PhD, Computational Biologist, Recursion, Salt Lake City, UT
  • Madison Quig, BS2023 Rhodes Scholar, Stanford University, Master in Social Data Science, University of Oxford, UK.
  • James G. Ryall, PhD, Chief Scientific Officer, Vow Food, Sydney, Australia
  • Kayoko Saso, PhD, Pharmacist
  • R. Louis Schiltz, PhD, Biologist, Laboratory of Receptor Biology and Gene Expression, NCI
  • Pei-Fang Tsai, Ph.D. Principal Scientist, Fate Therapeutics, San Diego, CA
  • Karinna Vivanco, Graduate Student, UC Berkeley/UCSF Bioengineering PhD Program
  • Stan Wang, MD PhD, CEO & Founder, Thymmune Therapeutics, Non-Resident Senior Fellow Council of Strategic Risks

Image & Media Gallery

Scientific Publications

Selected Recent Publications

Metabolic regulation in adult and aging skeletal muscle stem cells.

Sartorelli V, Ciuffoli V
Genes Dev.
2025 Feb 3;
39(3-4).
doi: 10.1101/gad.352277.124
PMID: 39662967

A deep learning framework for denoising and ordering scRNA-seq data using adversarial autoencoder with dynamic batching.

Ko KD, Sartorelli V
STAR Protoc.
2024 Jun 21;
5(2).
doi: 10.1016/j.xpro.2024.103067
PMID: 38748883

HDAC inhibitors as pharmacological treatment for Duchenne muscular dystrophy: a discovery journey from bench to patients: (Trends in Molecular Medicine, 30:3 p:278-294, 2024).

Mozzetta C, Sartorelli V, Steinkuhler C, Puri PL
Trends Mol Med.
2024 Jul;
30(7).
doi: 10.1016/j.molmed.2024.03.012
PMID: 38643051

Psat1-generated α-ketoglutarate and glutamine promote muscle stem cell activation and regeneration.

Ciuffoli V, Feng X, Jiang K, Acevedo-Luna N, Ko KD, Wang AHJ, Riparini G, Khateb M, Glancy B, Dell'Orso S, Sartorelli V
Genes Dev.
2024 Mar 22;
38(3-4).
doi: 10.1101/gad.351428.123
PMID: 38453480

A deep learning adversarial autoencoder with dynamic batching displays high performance in denoising and ordering scRNA-seq data.

Ko KD, Sartorelli V
iScience.
2024 Mar 15;
27(3).
doi: 10.1016/j.isci.2024.109027
PMID: 38361616

Polycomb Ezh1 maintains murine muscle stem cell quiescence through non-canonical regulation of Notch signaling.

Feng X, Wang AH, Juan AH, Ko KD, Jiang K, Riparini G, Ciuffoli V, Kaba A, Lopez C, Naz F, Jarnik M, Aliberti E, Hu S, Segalés J, Khateb M, Acevedo-Luna N, Randazzo D, Cheung TH, Muñoz-Cánoves P, Dell'Orso S, Sartorelli V
Dev Cell.
2023 Jun 19;
58(12).
doi: 10.1016/j.devcel.2023.04.005
PMID: 37105173

Protocols to generate and isolate mouse myogenic progenitors both in vitro and in vivo.

Khateb M, Feng X, Dell'Orso S, Sartorelli V
STAR Protoc.
2023 Mar 17;
4(1).
doi: 10.1016/j.xpro.2022.102001
PMID: 36607809

The JAK-STAT pathway at 30: Much learned, much more to do.

Philips RL, Wang Y, Cheon H, Kanno Y, Gadina M, Sartorelli V, Horvath CM, Darnell JE Jr, Stark GR, O'Shea JJ
Cell.
2022 Oct 13;
185(21).
doi: 10.1016/j.cell.2022.09.023
PMID: 36240739

Transcriptomics, regulatory syntax, and enhancer identification in mesoderm-induced ESCs at single-cell resolution.

Khateb M, Perovanovic J, Ko KD, Jiang K, Feng X, Acevedo-Luna N, Chal J, Ciuffoli V, Genzor P, Simone J, Haase AD, Pourquié O, Dell'Orso S, Sartorelli V
Cell Rep.
2022 Aug 16;
40(7).
doi: 10.1016/j.celrep.2022.111219
PMID: 35977485

Protocol for RNA-seq library preparation starting from a rare muscle stem cell population or a limited number of mouse embryonic stem cells.

Dell'Orso S, Juan AH, Moiseeva V, García-Prat L, Muñoz-Cánoves P, Sartorelli V
STAR Protoc.
2021 Jun 18;
2(2).
doi: 10.1016/j.xpro.2021.100451
PMID: 33937872

Enhancers, gene regulation, and genome organization.

Dean A, Larson DR, Sartorelli V
Genes Dev.
2021 Apr 1;
35(7-8).
doi: 10.1101/gad.348372.121
PMID: 33861718

Key Publications

Transcriptomics, regulatory syntax, and enhancer identification in mesoderm-induced ESCs at single-cell resolution. 

Khateb M, Perovanovic J, Ko KD, Jiang K, Feng X, Acevedo-Luna N, Chal J, Ciuffoli V, Genzor P, Simone J, Haase AD, Pourquié O, Dell'Orso S, Sartorelli V
Cell Rep.
2022 Aug 16;
40(7).
doi: 10.1016/j.celrep.2022.111219
PMID: 35977485

Single cell analysis of adult mouse skeletal muscle stem cells in homeostatic and regenerative conditions.

Dell'Orso S, Juan AH, Ko KD, Naz F, Perovanovic J, Gutierrez-Cruz G, Feng X, Sartorelli V
Development.
2019 Apr 11;
146(12).
pii: dev174177. doi: 10.1242/dev.174177
PMID: 30890574

A Muscle-Specific Enhancer RNA Mediates Cohesin Recruitment and Regulates Transcription In trans.

Tsai PF, Dell'Orso S, Rodriguez J, Vivanco KO, Ko KD, Jiang K, Juan AH, Sarshad AA, Vian L, Tran M, Wangsa D, Wang AH, Perovanovic J, Anastasakis D, Ralston E, Ried T, Sun HW, Hafner M, Larson DR, Sartorelli V
Mol Cell.
2018 Jul 5;
71(1).
doi: 10.1016/j.molcel.2018.06.008
PMID: 29979962

Shaping Gene Expression by Landscaping Chromatin Architecture: Lessons from a Master.

Sartorelli V, Puri PL
Mol Cell.
2018 Aug 2;
71(3).
doi: 10.1016/j.molcel.2018.04.025
PMID: 29887393

The Elongation Factor Spt6 Maintains ESC Pluripotency by Controlling Super-Enhancers and Counteracting Polycomb Proteins.

Wang AH, Juan AH, Ko KD, Tsai PF, Zare H, Dell'Orso S, Sartorelli V
Mol Cell.
2017 Oct 19;
68(2).
doi: 10.1016/j.molcel.2017.09.016
PMID: 29033324

Metabolic Reprogramming of Stem Cell Epigenetics.

Ryall JG, Cliff T, Dalton S, Sartorelli V
Cell Stem Cell.
2015 Dec 3;
17(6).
doi: 10.1016/j.stem.2015.11.012
PMID: 26637942

The NAD(+)-dependent SIRT1 deacetylase translates a metabolic switch into regulatory epigenetics in skeletal muscle stem cells.

Ryall JG, Dell'Orso S, Derfoul A, Juan A, Zare H, Feng X, Clermont D, Koulnis M, Gutierrez-Cruz G, Fulco M, Sartorelli V
Cell Stem Cell.
2015 Feb 5;
16(2).
doi: 10.1016/j.stem.2014.12.004
PMID: 25600643

eRNAs promote transcription by establishing chromatin accessibility at defined genomic loci.

Mousavi K, Zare H, Dell'orso S, Grontved L, Gutierrez-Cruz G, Derfoul A, Hager GL, Sartorelli V
Mol Cell.
2013 Sep 12;
51(5).
doi: 10.1016/j.molcel.2013.07.022
PMID: 23993744

News & Highlights

NIAMS-Related Article |

Creating Building Blocks for Muscle Regeneration

Last Updated: July 2025