Principal Investigator

Vittorio Sartorelli, M.D.

Vittorio Sartorelli, M.D., leads a team of scientists working to better understand the cellular and molecular mechanisms regulating specification, differentiation, and regeneration of skeletal muscle cells.

Skeletal muscle hosts stem cells (called Muscle Stem Cells or MuSCs) that sustain muscle growth, preserve homeostasis, and repair injuries occurring in muscle degenerative disease or trauma. Our laboratory studies how MuSCs acquire their identity during development and how their behavior is regulated during muscle regeneration and aging. We approach these questions by generating, analyzing, and integrating genomic, epigenomic, transcriptomic, and metabolomic datasets.

Areas of Interest

Specific areas of interest include:

Transcriptional Regulation of Skeletal Muscle Differentiation

Our research considers the biochemical and molecular characterization of individual transcription factors, chromatin regulators, and epigenetic marks during skeletal muscle specification and development. The genetic manipulation of the individual components is obtained by whole-body and conditional gene ablation in developing embryos and adult mice.

Regulatory Circuitry in Skeletal Muscle Cells

We study the integration of signaling pathways and the logics of transcription factors and chromatin regulators. We develop general operating principles and conduct gene network modeling based on genome-wide experimental data.

Regeneration of Adult Skeletal Muscle

Following injury, skeletal muscle vigorously regenerates. We investigate the cellular and molecular mechanisms underlying regeneration in animals in which individual genetic components have been ablated by homologous recombination.

Metabolic Regulation of Epigenetics

As satellite cells exit from quiescence during muscle regeneration, they are accompanied by changes in their metabolic state. We investigate the molecular connection between metabolism and epigenetic modification of chromatin that accompanies the transition from quiescence to proliferation and differentiation of muscle precursors.

The ultimate goal of our studies is to provide a conceptual and practical framework contributing to the diagnosis and treatment of human diseases affecting skeletal muscles.

Contact Us

Nikki Eiland

Sr. Administrative Assistant
9000 Rockville Pike
Building 50, Room 1518
Bethesda MD 20892


Deputy Scientific Director
Postdoctoral Fellow
Postdoctoral Fellow (Visiting)
Postbaccalaureate Fellow
Postdoctoral Fellow
Research Fellow
Postbaccalaureate Fellow
Postdoctoral Fellow (Visiting)
Research Fellow

Image & Media Gallery

Scientific Publications

Selected Recent Publications

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;
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;
doi: 10.1101/gad.348372.121
PMID: 33861718

FoxO maintains a genuine muscle stem-cell quiescent state until geriatric age.

García-Prat L, Perdiguero E, Alonso-Martín S, Dell'Orso S, Ravichandran S, Brooks SR, Juan AH, Campanario S, Jiang K, Hong X, Ortet L, Ruiz-Bonilla V, Flández M, Moiseeva V, Rebollo E, Jardí M, Sun HW, Musarò A, Sandri M, Del Sol A, Sartorelli V, Muñoz-Cánoves P
Nat Cell Biol.
2020 Nov;
doi: 10.1038/s41556-020-00593-7
PMID: 33106654

Enhancer RNAs are an important regulatory layer of the epigenome.

Sartorelli V, Lauberth SM
Nat Struct Mol Biol.
2020 Jun;
doi: 10.1038/s41594-020-0446-0
PMID: 32514177

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
2019 Apr 11;
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;
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;
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;
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;
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;
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;
doi: 10.1016/j.molcel.2013.07.022
PMID: 23993744

News & Highlights

Research Brief | May 10, 2017

Germ Cell Formation in Mice Relies on RNA Clearance Mechanism

All of our cells, be they skin, muscle or bone, contain the same genetic material. Yet these cells appear different and have unique functions. Decades of research have revealed that the distinctions arise during development as a result of differential gene expression. Now, new work has revealed clues about how this process occurs.
Spotlight on Research | September 15, 2015

NIAMS Interns Share Their 2015 Summer Experiences

Our 2015 summer interns received career mentoring from NIAMS researchers, attended lectures and symposia, engaged in basic and clinical research, and gained notable experience that will help them pursue their career goals. It is our pleasure to share with you their summer experiences.
Spotlight on Research | May 15, 2015

Protein Linked to Dermatomyositis Found to Have Role in Regenerating Muscle

Many people with a rare muscle disease called dermatomyositis carry antibodies to a protein called T1F1γ, but the protein’s role in normal and diseased muscle has been elusive. Now, a study led by investigators at the NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) provides some insight by showing that T1F1γ has a role in muscle regeneration.
Press Release | February 17, 2015

NIH researchers reveal link between powerful gene regulatory elements and autoimmune diseases

Investigators with the National Institutes of Health have discovered the genomic switches of a blood cell key to regulating the human immune system.
Spotlight on Research | September 15, 2014

NIAMS Interns Reflect on Their 2014 Summer Experience

The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) offers a Summer Research Program that provides outstanding opportunities for high school, undergraduate, graduate, and medical students contemplating a career in biomedical research or academic medicine.
Roundtable Discussion | March 5, 2014

From GWAS to ENCODE and Beyond — Recognizing DNA Functional Elements with Direct Relevance to Rheumatic, Skin, and Musculoskeletal Diseases

The overall goal of all NIAMS roundtables is to discuss scientific and clinical needs, and to listen to the concerns and challenges facing the scientific community. These sessions provide a valuable source of input for the NIAMS planning process. This specific roundtable explored the potential value of genome-wide data to define functional elements of the genome for research in NIAMS mission areas.
Last Updated: May 2021 Back to Top