Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

Br J Haematol. 2002 Apr;117(1):164-7. doi: 10.1046/j.1365-2141.2002.03385.x.

Abstract

May-Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal-dominant macrothrombocytopenias with Döhle-like leucocyte inclusions. These diseases are due to mutations of the MHY9 gene, encoding the heavy chain of non-muscle myosin IIA (NMMHC-A). We investigated the NMMHC-A localization in blood cells from eight MHA, SBS or FTNS patients with known MYH9 mutations. All the patients showed an altered localization of NMMHC-A in granulocytes and platelets, suggesting that Döhle-like bodies are due to the aggregation of NMMHC-A in the cytoplasm. Therefore, immunocytochemistry for NMMHC-A is a simple and sensitive method to detect pathological phenotypes of granulocytes and platelets in the diagnosis of MYH9-related disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Platelets / chemistry*
  • Case-Control Studies
  • Humans
  • Immunohistochemistry / methods
  • Leukocytes / chemistry*
  • Molecular Motor Proteins*
  • Mutation
  • Myosin Heavy Chains / analysis*
  • Myosin Heavy Chains / genetics
  • Nonmuscle Myosin Type IIA / analysis*
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics

Substances

  • MYH9 protein, human
  • Molecular Motor Proteins
  • Nonmuscle Myosin Type IIA
  • Myosin Heavy Chains