SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca2+-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody...

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Elmentve itt :
Bibliográfiai részletek
Szerzők: Guglielmi Valeria
Vattemi Gaetano
Gualandi Francesca
Voermans Nicol C.
Marini Matteo
Scotton Chiara
Pegoraro Elena
Oosterhof Arie
Kósa Magdolna
Zádor Ernő
Valente Enza Maria
Dallapiccola Bruno
van Engelen Baziel G.
Ferlini Alessandra
Tomelleri Giuliano
Dokumentumtípus: Cikk
Megjelent: Academic Press 2013
Sorozat:MOLECULAR GENETICS AND METABOLISM 110 No. 1-2
doi:10.1016/j.ymgme.2013.07.015

mtmt:2372643
Online Access:http://publicatio.bibl.u-szeged.hu/10875
Leíró adatok
Tartalmi kivonat:Brody disease is an inherited myopathy associated with a defective function of sarcoplasmic/endoplasmic reticulum Ca2+-ATPase 1 (SERCA1) protein. Mutations in the ATP2A1 gene have been reported only in some patients. Therefore it has been proposed to distinguish patients with ATP2A1 mutations, Brody disease (BD), from patients without mutations, Brody syndrome (BS). We performed a detailed study of SERCA1 protein expression in muscle of patients with BD and BS, and evaluated the alternative splicing of SERCA1 in primary cultures of normal human muscle and in infant muscle. SERCA1 reactivity was observed in type 2 muscle fibers of patients with and without ATP2A1 mutations and staining intensity was similar in patients and controls. Immunoblot analysis showed a significant reduction of SERCA1 band in muscle of BD patients. In addition we demonstrated that the wild type and mutated protein exhibits similar solubility properties and that RIPA buffer improves the recovery of the wild type and mutated SERCA1 protein. We found that SERCA1b, the SERCA1 neonatal form, is the main protein isoform expressed in cultured human muscle fibers and infant muscle. Finally, we identified two novel heterozygous mutations within exon 3 of the ATP2A1 gene from a previously described patient with BD.
Terjedelem/Fizikai jellemzők:162-169
ISSN:1096-7192

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