Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate with a Brugada Syndrome Phenotype Running title: Cerrone et al.; PKP2 Mutations in Brugada Syndrome
نویسندگان
چکیده
Leon H Charney Division of Cardiology; Cardiovascular Genetics Program; Dept of Pharmacology, NYU School of Medicine, New York, NY; Molecular Cardiology, Maugeri Foundation; Pavia, Italy; Del E. Webb Center for Neuroscience, Aging & Stem Cell Research, Sanford-Burnham Medical Research Institute, La Jolla, CA; Dept of Bioscience and Biotechnology, Sejong University, Seoul, Korea; Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD *contributed equally
منابع مشابه
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
BACKGROUND Brugada syndrome (BrS) primarily associates with the loss of sodium channel function. Previous studies showed features consistent with sodium current (INa) deficit in patients carrying desmosomal mutations, diagnosed with arrhythmogenic cardiomyopathy (or arrhythmogenic right ventricular cardiomyopathy). Experimental models showed correlation between the loss of expression of desmoso...
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1. Saguner AM, Duru F, Brunckhorst CB. Arrhythmogenic right ventricular cardiomyopathy: A challenging disease of the intercalated disc. Circulation 2013; 128: 1381 – 1386. 2. Saguner AM, Ganahl S, Kraus A, Baldinger SH, Medeiros-Domingo A, Saguner AR, et al. Clinical role of atrial arrhythmias in patients with arrhythmogenic right ventricular dysplasia. Circ J 2014; 78: 2854 – 2861. 3. Hulot JS...
متن کاملBrugada Syndrome Disease Phenotype Explained in Apparently Benign Sodium Channel Mutations Running title: Hoshi et al.; Atypical Mutations in Brugada Syndrome
a and d d Vascular R Researc rc ch h h Ce Ce Cent n er, D Depa p partme m ment o of f Me ed di d ci i in ne, Me M M troH oH Hea a alt lt lth h h Ca a amp mp mpu u us, , , 2 2 2 D Dep p par Phy hy hysi si siology & Bio o ophy ys s sics, C C Case W W We e est tern R Rese erv ve U U Uni ni nive ver rsit t ty y, Cle ev v vela a an n nd, Abstract: Background-Brugada syndrome (BrS) is an arrhythmogen...
متن کاملA novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.
BACKGROUND Mutations in genes including SCN5A encoding the α-subunit of the cardiac sodium channel (hNav1.5) cause Brugada syndrome via altered function of cardiac ion channels, but more than two-thirds of Brugada syndrome remains pathogenetically elusive. T-tubules and sarcoplasmic reticulum are essential in excitation of cardiomyocytes, and sarcolemmal membrane-associated protein (SLMAP) is a...
متن کاملCompound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.
BACKGROUND Loss-of-function mutations in SCN5A have been associated with the Brugada syndrome. We report the first Brugada syndrome family with compound heterozygous mutations in SCN5A. The proband inherited 1 mutation from each parent and transmitted 1 to each daughter. METHODS AND RESULTS The effects of the mutations on the function of the sodium channel were evaluated with heterologous exp...
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