Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: Immunohistochemical analysis and clinical aspects

Rita Barresi, Valeria Confalonieri, Massimo Lanfossi, Claudia Di Blasi, Elena Torchiana, Renato Mantegazza, Laura Jarre, Nardo Nardocci, Patrizia Boffi, Frediano Tezzon, Antonella Pini, Ferdinando Cornelio, Marina Mora, Lucia Morandi

Research output: Contribution to journalArticlepeer-review

Abstract

We have investigated the expression, using immunohistochemistry, of β- and γ-sarcoglycans in the muscles of 20 patients in whom previous screening had revealed a deficiency of α-sarcoglycan. α-, β- and γ-sarcoglycans were absent in 7 patients and variably reduced in 8 patients, in 2 of whom β-sarcoglycan was more reduced than the α- and γ-proteins. In 5 other patients with variably reduced α- and β-sarcoglycans, γ-sarcoglycan was completely absent. In all patients the distribution of hyposthenia at disease onset was similar, and predominantly involved pelvic girdle muscles; however, the age at onset and rate of disease progression were highly variable. In severely compromised patients, the onset of disease was before 10 years of age and γ-sarcoglycan or all three sarcoglycans were absent from muscles. Immunohistochemical analysis of sarcoglycans should be part of routine screening for muscle dystrophies to identify patients with sarcoglycanopathy. Gene analysis is necessary to identify the primary defect; however, sarcoglycan immunohistochemistry may be useful for indicating which gene to investigate. Further biochemical characterization of the interactions between these proteins is required to fully elucidate their roles in causing severe, moderate or mild muscular dystrophy.

Original languageEnglish
Pages (from-to)28-35
Number of pages8
JournalActa Neuropathologica
Volume94
Issue number1
DOIs
Publication statusPublished - Jul 1997

Keywords

  • Dystrophin-associated proteins
  • Dystrophin-glycoprotein complex
  • Limb-girdle muscular dystrophy
  • Sarcoglycans
  • Severe childhood autosomal recessive muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pathology and Forensic Medicine
  • Neuroscience(all)

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