Platelet and cardiac function in Darier's disease.
ATP2A2, the gene that is abnormal in Darier's disease, encodes SERCA2, a calcium pump that is expressed in many tissues. The wide expression of SERCA2 might suggest that ATP2A2 mutations would cause a multisystem disease. There is however, no evidence of consistent extracutaneous manifestations of Darier's disease. We have conducted preliminary studies in patients with Darier's disease, in two extracutaneous systems in which SERCA2 is known to be important, in order to investigate whether subtle defects have been overlooked. We found no evidence for altered cardiac function in 10 patients using two-dimensional, colour and Doppler echocardiography. There were no consistent defects in platelet function in 12 patients, using bleeding time and aggregation studies. We conclude that the skin is sensitive to defects in SERCA2 function to which other systems appear robust.
Tavadia
S
S
Department of Dermatology, Royal Infirmary, Castle Street, Glasgow G4 OSF, UK. sherinetavadia@cs.com
Tait
R C
RC
McDonagh
T A
TA
Munro
C S
CS
D000328:Adult; D000368:Aged; D001760:Bleeding Time; D000252:Calcium-Transporting ATPases / Q000235:genetics; D007644:Darier Disease / Q000097:blood* / Q000235:genetics / Q000503:physiopathology*; D018618:Echocardiography, Doppler, Color; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010974:Platelet Aggregation; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases
D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; D000252:Calcium-Transporting ATPases