Tavadia, S., Tait, R.C. , McDonagh, T.A. and Munro, C. (2001) Platelet and cardiac function in Darier's disease. Clinical and Experimental Dermatology, 26(8), pp. 696-699. (doi: 10.1046/j.1365-2230.2001.00921.x) (PMID:11722459)
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Abstract
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.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | Munro, Prof Colin and Tait, Dr Robert |
| Authors: | Tavadia, S., Tait, R.C., McDonagh, T.A., and Munro, C. |
| College/School: | College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing |
| Journal Name: | Clinical and Experimental Dermatology |
| Publisher: | Blackwell Science |
| ISSN: | 0307-6938 |
| ISSN (Online): | 1365-2230 |
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