Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

Nat Med. 2009 Nov;15(11):1281-8. doi: 10.1038/nm.2037. Epub 2009 Nov 1.

Abstract

Z-disks, the mechanical integration sites of heart and skeletal muscle cells, link anchorage of myofilaments to force reception and processing. The key molecules that enable the Z-disk to persistently withstand the extreme mechanical forces during muscle contraction have not yet been identified. Here we isolated nexilin (encoded by NEXN) as a novel Z-disk protein. Loss of nexilin in zebrafish led to perturbed Z-disk stability and heart failure. To evaluate the role of nexilin in human heart failure, we performed a genetic association study on individuals with dilated cardiomyopathy and found several mutations in NEXN associated with the disease. Nexilin mutation carriers showed the same cardiac Z-disk pathology as observed in nexilin-deficient zebrafish. Expression in zebrafish of nexilin proteins encoded by NEXN mutant alleles induced Z-disk damage and heart failure, demonstrating a dominant-negative effect and confirming the disease-causing nature of these mutations. Increasing mechanical strain aggravated Z-disk damage in nexilin-deficient skeletal muscle, implying a unique role of nexilin in protecting Z-disks from mechanical trauma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Animals
  • Animals, Genetically Modified
  • Cardiomyopathy, Dilated* / etiology
  • Cardiomyopathy, Dilated* / genetics
  • Cardiomyopathy, Dilated* / pathology
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 1
  • Computational Biology
  • Disease Models, Animal
  • Embryo, Mammalian
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Microfilament Proteins / deficiency
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Muscle Contraction / genetics
  • Muscle Fibers, Skeletal
  • Mutation / genetics*
  • Myocardium / pathology
  • Myocytes, Cardiac / metabolism
  • Myocytes, Cardiac / pathology*
  • Polymorphism, Single Nucleotide / genetics
  • Sarcomeres / genetics*
  • Sarcomeres / physiology
  • Zebrafish

Substances

  • Microfilament Proteins
  • NEXN protein, human