Michael John Ackerman, MD, PhD
Photo: Michael J. Ackerman






Elected 2010
The research in my laboratory is focused on elucidating pathogenetic mechanisms underlying youthful sudden death arbitrarily defined as sudden death involving anyone my age or younger. Our major projects revolve around 1) the most common cause of autopsy positive sudden cardiac death, hypertrophic cardiomyopathy (HCM), 2) the most common cause(s) of autopsy negative sudden cardiac death, the cardiac channelopathies, particularly long QT syndrome (LQTS), and 3) sudden infant death syndrome (SIDS). Our laboratory has discovered several novel HCM-, LQTS-, and SIDS-susceptibility genes and has helped mature genetic testing for these potentially lethal, highly treatable inherited arrhythmia syndromes from the research domain into clinically available genetic tests with diagnostic, prognostic, and therapeutic implications. The last four LQTS-susceptibility genes discovered in our laboratory encode channel interacting proteins like yotiao, alpha syntrophin, and caveolin-3 further expanding our targets for candidate gene discovery and further illuminating ion channels as intricate macromolecular complexes. Our laboratory performs a cardiac channel “molecular autopsy” for the postmortem investigation of autopsy negative sudden unexplained death and has established that approximately 5-10% of SIDS and 25-30% of such deaths involving children, adolescents, and young adults may be “channelopathic”, i.e. stemming from defective ion channels of the heart. Finally, given the large numbers of patients clinically seen with genetically characterized cardiomyopathies and channelopathies in Mayo Clinic’s HCM and LQTS clinics, numerous genotype-phenotype clinical studies have been performed. These genetically characterized patients are beginning to provide novel disease models for these syndromes with their skin biopsy-obtained, induced pluripotent stem cell-derived cardiomyocytes.