Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

Valeria Marigo, Alessandra Nigro, Alessandro Pecci, Donatella Montanaro, Mariateresa Di Stazio, Carlo L. Balduini, Anna Savoia

Research output: Contribution to journalArticle

Abstract

Nonmuscle myosin heavy chain II-A is responsible for MYH9-related disease, which is characterized by macrothrombocytopenia, granulocyte inclusions, deafness, cataracts, and renal failure. Since another two highly conserved nonmuscle myosins, II-B and II-C, are known, an analysis of their tissue distribution is fundamental for the understanding of their biological roles. In mouse, we found that all forms are ubiquitously expressed. However, megakaryocytic and granulocytic lineages express only II-A, suggesting that congenital features, macrothrombocytopenia, and leukocyte inclusions correlate with its exclusive presence. In kidney, eye, and ear, where clinical manifestations have a late onset, as well as in other tissues apparently not affected in patients, II-A and at least one of the other two isoforms are expressed, suggesting that II-B and II-C can partially compensate for each other. We hypothesize that cells expressing only II-A manifest the congenital defects, while tissues expressing additional myosin II isoforms show either late onset of abnormalities or no pathological sign.

Original languageEnglish
Pages (from-to)1125-1133
Number of pages9
JournalGenomics
Volume83
Issue number6
DOIs
Publication statusPublished - Jun 2004

Keywords

  • Gene expression
  • MYH10 gene
  • MYH14 gene
  • MYH9 gene
  • MYH9-related disease
  • Nonmuscle myosin heavy chains II

ASJC Scopus subject areas

  • Genetics

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