Toggle Main Menu Toggle Search

Open Access padlockePrints

Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A

Lookup NU author(s): Dr Richard Charlton, Professor Volker StraubORCiD, Emerita Professor Katherine Bushby, Dr Rita Barresi


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Immunoblot is currently the preferred laboratory test to assist the diagnosis of limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy). To assess whether immunohistochemistry may offer a reliable alternative screening we used two antibodies, Calp3-2C4 (exon 1) and Calp3-12A2 (exon 8), to label blots and sections of skeletal muscle from controls and patients with LGMD2A and other muscle diseases. In LGMD2A muscle biopsies a high degree of concordance was found with Calp3-2C4: labelling on sections was absent in patients with no bands on immunoblot and detected in those where CAPN3 bands were seen. Calp3-12A2 results were less consistent, with most samples retaining labelling. Interestingly, CAPN3 was found in all muscle sections from disease control patients irrespective of its detection on immunoblot. Our results show that immunohistochemistry with Calp3-2C4 has a similar pickup rate of LGMD2A as immunoblot and it may therefore be useful for distinguishing the majority of genuine CAPN3 defects from secondary protein reduction. However immunoblot is still needed when CAPN3 is present on sections to show secondary CAPN3 reduction and to identify LGMD2A with variable reduction of CAPN3 bands. © 2009 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Charlton R, Henderson M, Richards J, Hudson J, Straub V, Bushby K, Barresi R

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2009

Volume: 19

Issue: 7

Pages: 449-457

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2009.05.005


Altmetrics provided by Altmetric