Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case.

Dorotea, Tiziano; Grünberg, Walter; Murgiano, Leonardo; Plattet, Philippe; Drögemüller, Cord; Mascarello, Francesco; Sacchetto, Roberta (2015). Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case. Neuromuscular disorders, 25(11), pp. 888-897. Elsevier 10.1016/j.nmd.2015.08.010

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Missense mutations in ATP2A1 gene, encoding SERCA1 protein, cause a muscle disorder designed as congenital pseudomyotonia (PMT) in Chianina and Romagnola cattle or congenital muscular dystonia1 (CMD1) in Belgian Blue cattle. Although PMT is not life-threatening, CMD1 affected calves usually die within a few weeks of age as a result of respiratory complication. We have recently described a muscular disorder in a double muscle Dutch Improved Red and White cross-breed calf. Mutation analysis revealed an ATP2A1 mutation identical to that described in CMD1, even though clinical phenotype was quite similar to that of PMT. Here, we provide evidence for a deficiency of mutated SERCA1 in PMT affected muscles of Dutch Improved Red and White calf, but not of its mRNA. The reduced expression of SERCA1 is selective and not compensated by the SERCA2 isoform. By contrast, pathological muscles are characterized by a broad distribution of mitochondrial markers in all fiber types, not related to intrinsic features of double muscle phenotype and by an increased expression of sarcolemmal calcium extrusion pump. Calcium removal mechanisms, operating in muscle fibers as compensatory response aimed at lowering excessive cytoplasmic calcium concentration caused by SERCA1 deficiency, could explain the difference in severity of clinical signs.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Experimental Clinical Research
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Murgiano, Leonardo; Plattet, Philippe and Drögemüller, Cord

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health
600 Technology > 630 Agriculture

ISSN:

0960-8966

Publisher:

Elsevier

Language:

English

Submitter:

Cord Drögemüller

Date Deposited:

09 Nov 2015 11:30

Last Modified:

26 Jun 2016 02:08

Publisher DOI:

10.1016/j.nmd.2015.08.010

PubMed ID:

26482047

Uncontrolled Keywords:

Calcium homeostasis; Cattle congenital pseudomyotonia; Human Brody disease; Sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA1); Sarcoplasmic reticulum (SR); Skeletal muscle disease

BORIS DOI:

10.7892/boris.72779

URI:

https://boris.unibe.ch/id/eprint/72779

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