Coding sequences of sarcoplasmic reticulum calcium ATPase regulatory peptides and expression of calcium regulatory genes in recurrent exertional rhabdomyolysis.
RYR1
exercise
myopathy
skeletal muscle
tying up
Journal
Journal of veterinary internal medicine
ISSN: 1939-1676
Titre abrégé: J Vet Intern Med
Pays: United States
ID NLM: 8708660
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
received:
07
08
2018
accepted:
11
01
2019
pubmed:
6
2
2019
medline:
30
4
2019
entrez:
6
2
2019
Statut:
ppublish
Résumé
Sarcolipin (SLN), myoregulin (MRLN), and dwarf open reading frame (DWORF) are transmembrane regulators of the sarcoplasmic reticulum calcium transporting ATPase (SERCA) that we hypothesized played a role in recurrent exertional rhabdomyolysis (RER). Compare coding sequences of SLN, MRLN, DWORF across species and between RER and control horses. Compare expression of muscle Ca Twenty Thoroughbreds (TB), 5 Standardbreds (STD), 6 Quarter Horses (QH) with RER and 39 breed-matched controls. Sanger sequencing of SERCA regulatory genes with comparison of amino acid (AA) sequences among control, RER horses, human, mouse, and rabbit reference genomes. In RER and control gluteal muscle, quantitative real-time polymerase chain reaction of SERCA regulatory peptides, the calcium release channel (RYR1), and its accessory proteins calsequestrin (CASQ1), and calstabin (FKBP1A). The SLN gene was the highest expressed horse SERCA regulatory gene with a uniquely truncated AA sequence (29 versus 31) versus other species. Coding sequences of SLN, MRLN, and DWORF were identical in RER and control horses. A sex-by-phenotype effect occurred with lower CASQ1 expression in RER males versus control males (P < .001) and RER females (P = .05) and higher FKBP1A (P = .01) expression in RER males versus control males. The SLN gene encodes a uniquely truncated peptide in the horse versus other species. Variants in the coding sequence of SLN, MLRN, or DWORF were not associated with RER. Males with RER have differential gene expression that could reflect adaptations to stabilize RYR1.
Sections du résumé
BACKGROUND
BACKGROUND
Sarcolipin (SLN), myoregulin (MRLN), and dwarf open reading frame (DWORF) are transmembrane regulators of the sarcoplasmic reticulum calcium transporting ATPase (SERCA) that we hypothesized played a role in recurrent exertional rhabdomyolysis (RER).
OBJECTIVES
OBJECTIVE
Compare coding sequences of SLN, MRLN, DWORF across species and between RER and control horses. Compare expression of muscle Ca
ANIMALS
METHODS
Twenty Thoroughbreds (TB), 5 Standardbreds (STD), 6 Quarter Horses (QH) with RER and 39 breed-matched controls.
METHODS
METHODS
Sanger sequencing of SERCA regulatory genes with comparison of amino acid (AA) sequences among control, RER horses, human, mouse, and rabbit reference genomes. In RER and control gluteal muscle, quantitative real-time polymerase chain reaction of SERCA regulatory peptides, the calcium release channel (RYR1), and its accessory proteins calsequestrin (CASQ1), and calstabin (FKBP1A).
RESULTS
RESULTS
The SLN gene was the highest expressed horse SERCA regulatory gene with a uniquely truncated AA sequence (29 versus 31) versus other species. Coding sequences of SLN, MRLN, and DWORF were identical in RER and control horses. A sex-by-phenotype effect occurred with lower CASQ1 expression in RER males versus control males (P < .001) and RER females (P = .05) and higher FKBP1A (P = .01) expression in RER males versus control males.
CONCLUSIONS AND CLINICAL IMPORTANCE
CONCLUSIONS
The SLN gene encodes a uniquely truncated peptide in the horse versus other species. Variants in the coding sequence of SLN, MLRN, or DWORF were not associated with RER. Males with RER have differential gene expression that could reflect adaptations to stabilize RYR1.
Identifiants
pubmed: 30720217
doi: 10.1111/jvim.15425
pmc: PMC6430904
doi:
Substances chimiques
Muscle Proteins
0
Sarcoplasmic Reticulum Calcium-Transporting ATPases
EC 3.6.3.8
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
933-941Subventions
Organisme : Morris Animal Foundation
ID : D16Eq004
Organisme : Grayson Jockey Club Research Foundation
Organisme : NIA NIH HHS
ID : R37 AG026160
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR032961
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG026160
Pays : United States
Organisme : DDT NIH
ID : R01 HL129814, R37 AG26160
Organisme : Foundation for the National Institutes of Health
ID : R01HL129814, R37AG26160
Organisme : NHLBI NIH HHS
ID : R01 HL129814
Pays : United States
Informations de copyright
© 2019 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.
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