https://medicalxpress.com/news/2022-08- ... ilure.html
by Max Delbrück Center for Molecular Medicine
Cardiomyopathy is not a uniform disease. Rather, individual genetic defects lead to heart failure in different ways, an international consortium reports in Science.
The molecular and cellular mechanisms that lead to heart failure in people with cardiomyopathy are determined by the specific gene variant that each patient carries, according to newly published research based on the first comprehensive single-cell analysis of cardiac cells from healthy and failing hearts.
The work, reported in the journal Science, was conducted by 53 scientists from six countries in North America, Europe, and Asia.
The study shows that cell type compositions and gene activation profiles change according to the genetic variants. The investigators say the findings can inform the design of targeted therapies that take into account each patient's underlying gene defect responsible for their particular form of cardiomyopathy.
The team studied 880,000 single heart cells
Examining the genes activated in about 880,000 single cells from 61 failing hearts and 18 healthy donor hearts as reference was a complex endeavor which required an interdisciplinary team. The organs were procured by the Brigham and Woman's Hospital in Boston, U.S., University of Alberta in Canada, the Heart and Diabetes Center North Rhine-Westphalia in Bad Oeynhausen, Ruhr University Bochum in Germany and Imperial College London, UK.
Senior authors who spearheaded the project are Christine Seidman, professor of medicine and genetics at Harvard Medical School and a cardiologist at Brigham and Women's Hospital; Jonathan Seidman, professor of genetics at Harvard Medical School; Norbert Hübner, professor of cardiovascular and metabolic sciences at the Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC) and Charité—Universitätsmedizin Berlin as well as Dr. Gavin Oudit, University of Alberta, Canada; Professor Hendrik Milting, Heart and Diabetes Center NRW, Bad Oeynhausen, Ruhr University Bochum, Germany; Dr. Matthias Heinig, Helmholtz Munich, Germany; Dr. Michela Noseda of the National Heart and Lung Institute at Imperial College London, UK and Professor Sarah Teichmann, Wellcome Sanger Institute in Cambridge, UK. Joint first authors are Dr. Daniel Reichart (Harvard), Eric Lindberg and Dr. Henrike Maatz (both MDC).