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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 ≈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 excludedSCN5A 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 &gt;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 ≈50% (P &lt;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.

circulation

Mutation in Glycerol-3-Phosphate Dehydrogenase 1–Like Gene ( <i>GPD1-L</i> ) Decreases Cardiac Na <sup>+</sup> Current and Causes Inherited Arrhythmias

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

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