A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle

Sacchetto, R.; Testoni, S.; Gentile, A.; Damiani, E.; Rossi, M.; Liguori, R.; Drögemüller, Cord; Mascarello, R. (2009). A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. American journal of pathology, 174(2), pp. 565-73. New York, N.Y.: Elsevier 10.2353/ajpath.2009.080659

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Recently, a muscular disorder defined as "congenital pseudomyotonia" was described in Chianina cattle, one of the most important Italian cattle breeds for quality meat and leather. The clinical phenotype of this disease is characterized by an exercise-induced muscle contracture that prevents animals from performing muscular activities. On the basis of clinical symptoms, Chianina pseudomyotonia appeared related to human Brody's disease, a rare inherited disorder of skeletal muscle function that results from a sarcoplasmic reticulum Ca(2+)-ATPase (SERCA1) deficiency caused by a defect in the ATP2A1 gene that encodes SERCA1. SERCA1 is involved in transporting calcium from the cytosol to the lumen of the sarcoplasmic reticulum. Recently, we identified the genetic defect underlying Chianina cattle pseudomyotonia. A missense mutation in exon 6 of the ATP2A1 gene, leading to an R164H substitution in the SERCA1 protein, was found. In this study, we provide biochemical evidence for a selective deficiency in SERCA1 protein levels in sarcoplasmic reticulum membranes from affected muscles, although mRNA levels are unaffected. The reduction of SERCA1 levels accounts for the reduced Ca(2+)-ATPase activity without any significant change in Ca(2+)-dependency. The loss of SERCA1 is not compensated for by the expression of the SERCA2 isoform. We believe that Chianina cattle pseudomyotonia might, therefore, be the true counterpart of human Brody's disease, and that bovine species might be used as a suitable animal model.

Item Type:	Journal Article (Original Article)
Division/Institute:	05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
UniBE Contributor:	Drögemüller, Cord
Subjects:	500 Science > 590 Animals (Zoology) 600 Technology > 630 Agriculture
ISSN:	0002-9440
Publisher:	Elsevier
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 15:25
Last Modified:	05 Dec 2022 14:26
Publisher DOI:	10.2353/ajpath.2009.080659
Web of Science ID:	000262684800020
Additional Information:	Sacchetto, Roberta;Testoni, Stefania;Gentile, Arcangelo;Damiani, Ernesto;Rossi, Marco;Liguori, Rocco;
URI:	https://boris.unibe.ch/id/eprint/38294 (FactScience: 220949)