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Researcher | Research Overview

Dr. Gussoni’s laboratory studies muscle stem cells in human and mouse tissues, with the goal of developing strategies that will slow the progression of and improve muscle function for muscular dystrophy.

Laboratory Projects:

  1. Tetraspanin CD82 in muscle stem cells and its role in normal and dystrophic muscle: CD82 is expressed in muscle stem cells and its expression is decreased in patients with Duchenne muscular dystrophy. This project will determine if CD82 upregulation is beneficial to dystrophic muscle and conversely, whether ablation of CD82 expression in dystrophic muscle worsens the disease.

  2. Bipotent progenitors (muscle or fat) in skeletal muscle: We identified progenitors in skeletal muscle that express BMPR1a and can adopt a myogenic or adipogenic fate. We are studying the downstream molecular mechanisms that regulate the fate determination of these progenitors towards muscle or fat lineages. We want to study the developmental origin of these cells and their contribution to developing and adult skeletal muscle in both normal and diseased conditions.

  3. Proteins that mediate fusion of myoblasts into myofibers: We have identified several candidate genes that significantly change in expression during muscle cell differentiation and fusion. This project studies the function of candidate genes in muscle cells and in regenerating muscle. Additionally, the candidate genes are tested for presence of mutations in patients with uncharacterized muscle disorders.

Researcher | Research Background

Dr. Gussoni obtained her Ph.D. degree from the University of Milan, Italy. She moved to the United States and did her first postdoctoral fellowship at Stanford University, where she evaluated expression of dystrophin and donor cell survival in DMD patients that participated in a myoblast transfer clinical trial. She then moved to Boston Children’s Hospital for her second postdoctoral fellowship training, where she studied muscle and bone marrow stem cells and their ability to deliver dystrophin following systemic injection. She established her own laboratory at Boston Children’s Hospital in early 2000 and she is presently an Associate Professor at Harvard University. She has been a permanent member of the Muscular Dystrophy Association (USA) Scientific Advisory Committee since 2006.

Selected Publications

  1. Alexander MS, Rozkalne A, Colletta A, Spinazzola JS, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E. CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. Cell Stem Cell 19(6): 800-807. ePub Sept 15, 2016. PMID:27641304.
  2. Huang P, Schulz TJ, Beauvais A, Tseng YH and Gussoni E. Intramuscular adipogenesis is inhibited by myo-endothelial progenitors with functioning Bmpr1a signalling. Nat Commun. 2014 Jun 5;5:4063. doi: 10.1038/ncomms5063. PMID: 24898859. Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM and Gussoni E. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J. 2014 Jul;28(7):2955-69. doi: 10.1096/fj.13-246470. Epub 2014 Mar 31. PMID: 24687993.
  3. Sohn RL, Huang P, Kawahara G, Mitchell M, Guyon J, Kalluri R, Kunkel LM and Gussoni E. A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9274-9. Epub 2009 May 22. PMID: 19470472.

Researcher | Publications