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5. Abstract 16940: Serum Amine-based Metabolites and Their Association With Outcomes in Primary Prevention Implantable Cardioverter Defibrillator Patients

Author

Zhang, Yiyi, primary, Blasco-Colmenares, Elena, additional, Harms, Amy, additional, London, Barry, additional, Halder, Indrani, additional, Singh, Madhurmeet, additional, Dudley, Samuel, additional, Gutmann, Rebecca, additional, Guallar, Eliseo, additional, Hankemeier, Thomas, additional, Tomaselli, Gordon, additional, and Cheng, Alan, additional

Published
2015
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6. Abstract 17984: No Longer Silent: A Synonymous Coding SNP Modifying a Novel MicroRNA-24:SCN5A Interaction Associates With Non-Arrhythmic Death in Heart Failure

Author

Boudreau, Ryan L, primary, Spengler, Ryan M, additional, Skeie, Jessica M, additional, Zhang, Xiaoming, additional, Cheng, Congsheng, additional, Yoon, Jin-Young, additional, Gutmann, Rebecca A, additional, Bloom, Heather L, additional, Dudley, Samuel C, additional, Ellinor, Patrick T, additional, Shalaby, Alaa A, additional, Weiss, Raul, additional, Johnson, Frances L, additional, Davidson, Beverly L, additional, and London, Barry, additional

Published
2015
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7. Abstract 19030: High Mortality in Cardiomyopathy Patients Heterozygous for the CFTR ΔF508 Cystic Fibrosis Mutation

Author

London, Barry, primary, Boudreau, Ryan, additional, Halder, Indrani, additional, Vargas-Estrada, Andres, additional, Comellas, Alejandro, additional, Johnson, Frances L, additional, Zabner, Joseph, additional, Gutmann, Rebecca A, additional, Bloom, Heather L, additional, Dudley, Samuel C, additional, Ellinor, Patrick T, additional, Shalaby, Alaa, additional, and Weiss, Raul, additional

Published
2015
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10. Mutation in Glycerol-3-Phosphate Dehydrogenase 1–Like Gene ( GPD1-L ) Decreases Cardiac Na + Current and Causes Inherited Arrhythmias

Author

London, Barry, primary, Michalec, Michael, additional, Mehdi, Haider, additional, Zhu, Xiaodong, additional, Kerchner, Laurie, additional, Sanyal, Shamarendra, additional, Viswanathan, Prakash C., additional, Pfahnl, Arnold E., additional, Shang, Lijuan L., additional, Madhusudanan, Mohan, additional, Baty, Catherine J., additional, Lagana, Stephen, additional, Aleong, Ryan, additional, Gutmann, Rebecca, additional, Ackerman, Michael J., additional, McNamara, Dennis M., additional, Weiss, Raul, additional, and Dudley, Samuel C., additional

Published
2007
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11. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.

Author

London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, and Dudley SC Jr

Subjects
Animals, COS Cells, Chlorocebus aethiops, Chromosomes, Human, Pair 3, Family Health, Female, Glycerolphosphate Dehydrogenase metabolism, Heart physiology, Humans, Italy, Kidney cytology, Male, Muscle Proteins metabolism, NAV1.5 Voltage-Gated Sodium Channel, Pedigree, Point Mutation, Sodium metabolism, Sodium Channels metabolism, Sugar Alcohol Dehydrogenases metabolism, Ventricular Fibrillation genetics, Ventricular Fibrillation physiopathology, Brugada Syndrome genetics, Brugada Syndrome physiopathology, Glycerolphosphate Dehydrogenase genetics, Muscle Proteins genetics, Sodium Channels genetics, Sugar Alcohol Dehydrogenases genetics
Abstract

Background: Brugada syndrome is a rare, autosomal-dominant, male-predominant form of idiopathic ventricular fibrillation characterized by a right bundle-branch block and ST elevation in the right precordial leads of the surface ECG. Mutations in the cardiac Na+ channel SCN5A on chromosome 3p21 cause approximately 20% of the cases of Brugada syndrome; most mutations decrease inward Na+ current, some by preventing trafficking of the channels to the surface membrane. We previously used positional cloning to identify a new locus on chromosome 3p24 in a large family with Brugada syndrome and excluded SCN5A as a candidate gene., Methods and Results: We used direct sequencing to identify a mutation (A280V) in a conserved amino acid of the glycerol-3-phosphate dehydrogenase 1-like (GPD1-L) gene. The mutation was present in all affected individuals and absent in >500 control subjects. GPD1-L RNA and protein are abundant in the heart. Compared with wild-type GPD1-L, coexpression of A280V GPD1-L with SCN5A in HEK cells reduced inward Na+ currents by approximately 50% (P<0.005). Wild-type GPD1-L localized near the cell surface to a greater extent than A280V GPD1-L. Coexpression of A280V GPD1-L with SCN5A reduced SCN5A cell surface expression by 31+/-5% (P=0.01)., Conclusions: GPD1-L is a novel gene that may affect trafficking of the cardiac Na+ channel to the cell surface. A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome.

Published
2007
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