Heterozygous disruption of SERCA2a is not associated with impairment of cardiac performance in humans: implications for SERCA2a as a therapeutic target in heart failure.

Journal article

OBJECTIVE: To verify whether a deficiency in the cardiac sarcoplasmic reticulum pump SERCA2a causes cardiac dysfunction in humans. DESIGN: Cardiac performance was measured in a serendipitous human model of primary SERCA2a deficiency, Darier's disease, an autosomal dominant skin disorder caused by mutations inactivating one copy of the ATP2A2 gene, which encodes SERCA2a. METHODS: Systolic and diastolic function and contractility were assessed by echocardiography at rest and during exercise in...

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Authors: Mayosi, B; Kardos, A; Davies, C; Gumedze, F; Hovnanian, A

• Publication status: Published
• Journal: Heart (British Cardiac Society)
• Volume: 92
• Issue: 1
• Pages: 105-109
• Publication date: 2006-01-01
• DOI: 10.1136/hrt.2004.051037
• EISSN: 1468-201X
• ISSN: 1355-6037
• Language: English
• Keywords: Heart Failure; Exercise Tolerance; Calcium-Transporting ATPases; Mutation; Humans; Female; Heterozygote; Middle Aged; Gene Therapy; Case-Control Studies; Darier Disease; Male; Cardiomyopathy, Dilated; Sarcoplasmic Reticulum Calcium-Transporting ATPases