Article
Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (LMNA/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (TMPO/Arg690Cys).
International journal of molecular sciences - 7 Nov 2022
González-Garrido Antonia, Rosas-Madrigal Sandra, Rojo-Domínguez Arturo, Arellanes-Robledo Jaime, López-Mora Enrique, Carnevale Alessandra, Arregui Leticia, Rosendo-Gutiérrez Rigoberto, Romero-Hidalgo Sandra, Villarreal-Molina María Teresa
Abstract excerpt
The clinical phenotype of LMNA-associated dilated cardiomyopathy (DCM) varies even among individuals who share the same mutation. LMNA encodes lamin AC, which interacts with the lamin-associated protein 2 alpha (LAP2α) encoded by the TMPO gene. The LAP2α/Arg690Cys polymorphism is frequent in Latin America and was previously found to disrupt LAP2α-Lamin AC interactions in vitro. We identified a DCM patient...
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