Loss of CENP-F Results in Dilated Cardiomyopathy with Severe Disruption of Cardiac Myocyte Architecture

Sci Rep. 2018 May 15;8(1):7546. doi: 10.1038/s41598-018-25774-1.

Abstract

Centromere-binding protein F (CENP-F) is a very large and complex protein with many and varied binding partners including components of the microtubule network. Numerous CENP-F functions impacting diverse cellular behaviors have been identified. Importantly, emerging data have shown that CENP-F loss- or gain-of-function has critical effects on human development and disease. Still, it must be noted that data at the single cardiac myocyte level examining the impact of CENP-F loss-of-function on fundamental cellular behavior is missing. To address this gap in our knowledge, we analyzed basic cell structure and function in cardiac myocytes devoid of CENP-F. We found many diverse structural abnormalities including disruption of the microtubule network impacting critical characteristics of the cardiac myocyte. This is the first report linking microtubule network malfunction to cardiomyopathy. Importantly, we also present data demonstrating a direct link between a CENP-F single nucleotide polymorphism (snp) and human cardiac disease. In a proximate sense, these data examining CENP-F function explain the cellular basis underlying heart disease in this genetic model and, in a larger sense, they will hopefully provide a platform upon which the field can explore diverse cellular outcomes in wide-ranging areas of research on this critical protein.

MeSH terms

  • Animals
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / metabolism
  • Cardiomyopathy, Dilated / pathology
  • Chromosomal Proteins, Non-Histone / genetics*
  • Chromosomal Proteins, Non-Histone / metabolism
  • Disease Models, Animal
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Heart Failure / genetics*
  • Heart Failure / physiopathology
  • Humans
  • Intercellular Junctions / pathology
  • Loss of Function Mutation*
  • Mice
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / metabolism
  • Microtubules / pathology
  • Myocytes, Cardiac / metabolism
  • Myocytes, Cardiac / pathology*
  • Polymorphism, Single Nucleotide*
  • Stroke Volume

Substances

  • Chromosomal Proteins, Non-Histone
  • Microfilament Proteins
  • centromere protein F