Calpain-related diseases

Biochem Biophys Res Commun. 2004 Oct 1;322(4):1098-104. doi: 10.1016/j.bbrc.2004.07.126.

Abstract

Calpains are calcium-modulated proteases which respond to Ca2+ signals by removing limited portions of protein substrates, thereby irreversibly modifying their function(s). Members of this protease family are present in a variety of organisms ranging from mammals to plants; some of them are ubiquitously expressed, while others are tissue specific. Although calpains are apparently involved in a multitude of physiological and pathological events, their functions are still poorly understood. In two cases, however, the alteration of a member of the calpain family has been clearly identified as being responsible for a human disease: the loss of function of calpain 3 causes limb girdle muscular dystrophy type 2A, and mutations in the gene coding for calpain 10 have been shown to correlate with non-insulin-dependent diabetes.

Publication types

  • Review

MeSH terms

  • Calpain / chemistry
  • Calpain / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Humans
  • Isoenzymes / genetics*
  • Muscle Proteins / genetics*
  • Muscular Dystrophies / genetics*
  • Mutation

Substances

  • Isoenzymes
  • Muscle Proteins
  • CAPN3 protein, human
  • Calpain
  • calpain 10