Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.

ABSTRACT:

Background

Beyond the observed alterations in cellular structure and mitochondria, the mechanisms linking rare genetic mutations to the development of heart failure in patients affected by desmin mutations remain unclear due in part, to the lack of relevant human cardiomyocyte models.

Methods

To shed light on the role of mitochondria in these mechanisms, we investigated cardiomyocytes derived from human induced pluripotent stem cells carrying the heterozygous DES^E439K mutation that were either isolated from a patient or generated by gene editing. To increase physiological relevance, cardiomyocytes were either cultured on an anisotropic micropatterned surface to obtain elongated and aligned cardiomyocytes, or as a cardiac spheroid to create a micro-tissue. Moreover

SUBMITTER: Hovhannisyan Y 

PROVIDER: S-EPMC10763022 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature