SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy

Brain. 2006 Aug;129(Pt 8):2085-92. doi: 10.1093/brain/awl128. Epub 2006 May 19.

Abstract

We describe four patients, from four different families, affected by a mild myopathy or asymptomatic elevated serum creatine kinase levels, in whom toluidine blue-stained semithin sections of muscle specimens revealed inclusions of different size and shape. The inclusions did not stain by routine histochemical studies. The sarcoplasmic or endoplasmic reticulum calcium 1 (SERCA1) ATPase and/or calsequestrin reactivity of inclusions, by immunohistochemistry, and the SERCA1- and calsequestrin-increased expression, by immunoblot, suggested that inclusions were constituted by an excess of proteins normally present in the terminal cisternae of sarcoplasmic reticulum. Our cases, both sporadic and familial, represent a new type of surplus protein myopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Calcium-Transporting ATPases / metabolism*
  • Calsequestrin / metabolism*
  • Female
  • Humans
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / ultrastructure
  • Muscular Diseases / metabolism*
  • Muscular Diseases / pathology
  • Sarcoplasmic Reticulum / metabolism
  • Sarcoplasmic Reticulum / ultrastructure
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases

Substances

  • Calsequestrin
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • ATP2A1 protein, human
  • Calcium-Transporting ATPases