SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy.
We describe four patients, from four different families, affected by a mild myopathy or asymptomatic elevated serum creatine kinase levels, in whom toluidine blue-stained semithin sections of muscle specimens revealed inclusions of different size and shape. The inclusions did not stain by routine histochemical studies. The sarcoplasmic or endoplasmic reticulum calcium 1 (SERCA1) ATPase and/or calsequestrin reactivity of inclusions, by immunohistochemistry, and the SERCA1- and calsequestrin-increased expression, by immunoblot, suggested that inclusions were constituted by an excess of proteins normally present in the terminal cisternae of sarcoplasmic reticulum. Our cases, both sporadic and familial, represent a new type of surplus protein myopathy.
Tomelleri
Giuliano
G
Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy. giuliano.tomelleri@univr.it
Palmucci
Laura
L
Tonin
Paola
P
Mongini
Tiziana
T
Marini
Matteo
M
L'erario
Roberto
R
Rizzuto
Nicolò
N
Vattemi
Gaetano
G
D000328:Adult; D000368:Aged; D000252:Calcium-Transporting ATPases / Q000378:metabolism*; D002155:Calsequestrin / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism / Q000648:ultrastructure; D009135:Muscular Diseases / Q000378:metabolism* / Q000473:pathology; D012519:Sarcoplasmic Reticulum / Q000378:metabolism / Q000648:ultrastructure; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases
D002155:Calsequestrin; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506943:ATP2A1 protein, human; D000252:Calcium-Transporting ATPases