A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy

Desmin (DES) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 (TXNRD-2) is essential for mitochondrial oxygen radical scavenging. We describe a rare case of dilated cardiomyopathy (DCM) in an 18-year-o...

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Detalles Bibliográficos
Autores principales: Khatun, Nazima, Zaveri, Sahil, Salciccioli, Louis, John, Sabu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Cardiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351334/
https://www.ncbi.nlm.nih.gov/pubmed/37465804
http://dx.doi.org/10.7759/cureus.40560
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author Khatun, Nazima
Zaveri, Sahil
Salciccioli, Louis
John, Sabu
author_facet Khatun, Nazima
Zaveri, Sahil
Salciccioli, Louis
John, Sabu
author_sort Khatun, Nazima
collection PubMed
description Desmin (DES) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 (TXNRD-2) is essential for mitochondrial oxygen radical scavenging. We describe a rare case of dilated cardiomyopathy (DCM) in an 18-year-old female with a heterozygous mutation involving both DES and TXNRD-2 genes.
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spelling pubmed-103513342023-07-18 A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy Khatun, Nazima Zaveri, Sahil Salciccioli, Louis John, Sabu Cureus Cardiology Desmin (DES) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 (TXNRD-2) is essential for mitochondrial oxygen radical scavenging. We describe a rare case of dilated cardiomyopathy (DCM) in an 18-year-old female with a heterozygous mutation involving both DES and TXNRD-2 genes. Cureus 2023-06-17 /pmc/articles/PMC10351334/ /pubmed/37465804 http://dx.doi.org/10.7759/cureus.40560 Text en Copyright © 2023, Khatun et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Cardiology
Khatun, Nazima
Zaveri, Sahil
Salciccioli, Louis
John, Sabu
A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy
title A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy
title_full A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy
title_fullStr A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy
title_full_unstemmed A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy
title_short A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy
title_sort rare case of coexisting mutation in desmin and thioredoxin reductase 2 genes causing dilated cardiomyopathy
topic Cardiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10351334/
https://www.ncbi.nlm.nih.gov/pubmed/37465804
http://dx.doi.org/10.7759/cureus.40560
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