Principal Investigator

Vittorio Sartorelli, M.D.

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

We study the cellular and molecular mechanisms regulating specification, differentiation, and regeneration of skeletal muscle cells. We pursue these studies by combining genomic and proteomic-based approaches complemented by bioinformatics and animal models.

Specific areas of interest include:

  • Transcriptional Regulation of Skeletal Muscle Differentiation. Biochemical and molecular characterization of individual transcription factors, chromatin regulators, and epigenetic marks during skeletal muscle specification and development. 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. Integration of signaling pathways and logics of transcription factors and chromatin regulators. General operating principles and gene network modeling are developed based on genome-wide experimental data.
  • Regeneration of Adult Skeletal Muscle. Following injury, skeletal muscle vigorously regenerates. The cellular and molecular mechanisms underlying regeneration are investigated in animals in which individual genetic components have been ablated by homologous recombination.
  • Metabolic Regulation of Epigenetics. Exit from quiescence of satellite cells during muscle regeneration is 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.


Deputy Scientific Director
Group Leader
Earl Stadtman Tenure Track Investigator
Unit Leader
Principal Investigator
Postbaccalaureate Fellow
Visiting Fellow
Visiting Fellow
Visiting Fellow
Postbaccalaureate Fellow
Visiting Fellow
Research Fellow
Postbaccalaureate Fellow
Staff Scientist
Visiting Fellow
Research Fellow
Postdoctoral Fellow
Clinical Fellow
Special Volunteer
Research Fellow

Image & Media Gallery

Scientific Publications

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):129-141.e8. 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):375-388. doi: 10.1016/j.molcel.2018.04.025. Epub 2018 Jun 7. Review.  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):398-413.e6. doi: 10.1016/j.molcel.2017.09.016. Epub 2017 Oct 12.  PMID:    29033324

Metabolic Reprogramming of Stem Cell Epigenetics.  Ryall JG, Cliff T, Dalton S, Sartorelli V.  Cell Stem Cell. 2015 Dec 3;17(6):651-662. doi: 10.1016/j.stem.2015.11.012. Review.  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):171-83. doi: 10.1016/j.stem.2014.12.004. Epub 2015 Jan 15.  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):606-17. doi: 10.1016/j.molcel.2013.07.022. Epub 2013 Aug 29. PMID: 23993744

Latest News

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 Reviewed: 02/17/2017