Primary Focus:
1. Investigate the roles of slow skeletal (sMyBP-C) and fast skeletal (fMyBP-C) myosin binding proteins in muscle structure, function, development, and aging.
2. Uncover the cellular and molecular mechanisms underlying congenital muscle myopathies such as distal arthrogryposis (DA).
3. Evaluate and develop therapeutic approaches, including small molecules, adeno-associated virus (AAV) therapies, and antisense oligonucleotides (ASOs), for the treatment of genetic cardiac and skeletal muscle diseases.
Publications:
http://www.ncbi.nlm.nih.gov/myncbi/12qHll9a99wQ7/bibliography/public/
http://scholar.google.com/citations?user=FkjP8l8AAAAJ&hl=en&oi=ao
Lab members:
Kayani Ananthamohan, PhD
Akhil Baby, MS
Brent Cernyar, MS
A key focus of my team is investigating the structural and functional roles of the sarcomere regulatory protein, Myosin Binding Protein-C (MyBP-C), in cardiac and skeletal muscle. We explore the pathophysiological impacts of mutations and modifications in the three MyBP-C isoforms—cardiac, slow skeletal, and fast skeletal MyBP-C. Using knock-in and knock-out mouse models, along with various cell lines such as primary myoblasts and human-induced pluripotent stem cells (hiPSCs), our lab aims to uncover the contributions of each MyBP-C isoform to muscle development, regeneration, and the progression of congenital cardiac and skeletal muscle myopathies. We employ a range of advanced techniques, including in vivo and in vitro muscle function test, calcium handling analysis, confocal imaging, RNA sequencing (RNA-seq), and X-ray diffraction study. Additionally, our research extends to the development and testing of potential therapeutic approaches, including small molecules, adeno-associated virus (AAV) therapies, and antisense oligonucleotides (ASOs) to treat diseases caused by MyBP-C mutations and other sarcomere gene defects.
Research Funding:
Active:
AHA Career Development Award (23CDA1046498)
Song (PI)
04/01/2023 – 03/31/2026
Regulation of skeletal myosin binding protein-Cs in cardiac arrhythmias and myocardial infarction
Completed:
UC College of Medicine Pilot Grant
Song (PI)
03/01/2024 – 02/29/2025
Cellular and Molecular Aspects of Distal Arthrogryposis-Associated MYBPC1 variants.
AHA Postdoctoral Fellowship (19POST34380448)
Song (PI)
07/01/2019 – 06/30/2021
Molecular mechanism of hypertrophic cardiomyopathy in populations of South Asian descendants