We work with clinicians and scientific collaborators to obtain cells (blood, skin, urine) from patients with genetic mutations in cardiac and skeletal muscle proteins that cause diseases such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), Deuchenne’s Muscular Dystrophy (DMD) and Distal Arthrogryposis. These cells are converted to stem cells and then turned into heart and skeletal muscle cells using state of the art molecular biology approaches. Alternatively, we use gene-editing techniques to introduce de novo mutations like those found in diseases into wild type (non-affected) stem cells. Muscle cells derived from these stem cell sources are used to study the initiation and development of disease and to develop new therapeutic approaches to treat disease.
Related Publications
- Lundy SD, Zhu WZ, Regnier M, Laflamme MA. Structural and functional maturation of cardiomyocytes derived from human pluripotent stem cells. Stem Cells Dev. 2013 Jul 15;22(14):1991-2002. PubMed PMID: 23461462; PubMed Central PMCID: PMC3699903.
- Yang X, Rodriguez M, Pabon L, Fischer KA, Reinecke H, Regnier M, Sniadecki NJ, Ruohola-Baker H, Murry CE. Tri-iodo-l-thyronine promotes the maturation of human cardiomyocytes-derived from induced pluripotent stem cells. J Mol Cell Cardiol. 2014 Jul;72:296-304. PubMed PMID: 24735830; PubMed Central PMCID: PMC4041732.
- Racca AW, Klaiman JM, Pioner JM, Cheng Y, Beck AE, Moussavi-Harami F, Bamshad MJ, Regnier M. Contractile properties of developing human fetal cardiac muscle. J Physiol. 2016 Jan 15;594(2):437-52. PubMed PMID: 26460603; PubMed Central PMCID: PMC4713728.
- Pioner JM, Racca AW, Klaiman JM, Yang KC, Guan X, Pabon L, Muskheli V, Zaunbrecher R, Macadangdang J, Jeong MY, Mack DL, Childers MK, Kim DH, Tesi C, Poggesi C, Murry CE, Regnier M. Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Stem Cell Reports. 2016 Jun 14;6(6):885-96. PubMed PMID: 27161364; PubMed Central PMCID: PMC4911495.