A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy

Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in PNPLA2 encoding adipose triglyceride lipase (ATGL), exhibits severe cardiomyocyte steatosis and heart failure. Here, we report the case of a 51-year-old man with P-TGCV homozygous for a novel PNPLA2 mut...

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Autores principales: Hara, Yasuhiro, Ikeda, Yoshihiko, Kimura, Hayato, Shimamoto, Shinsaku, Ishikawa, Mao, Kobayashi, Kunihisa, Nagasaka, Hironori, Shimoyama, Hisashi, Hirano, Ken-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9945797/
https://www.ncbi.nlm.nih.gov/pubmed/36846631
http://dx.doi.org/10.1016/j.ymgmr.2023.100960
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author Hara, Yasuhiro
Ikeda, Yoshihiko
Kimura, Hayato
Shimamoto, Shinsaku
Ishikawa, Mao
Kobayashi, Kunihisa
Nagasaka, Hironori
Shimoyama, Hisashi
Hirano, Ken-ichi
author_facet Hara, Yasuhiro
Ikeda, Yoshihiko
Kimura, Hayato
Shimamoto, Shinsaku
Ishikawa, Mao
Kobayashi, Kunihisa
Nagasaka, Hironori
Shimoyama, Hisashi
Hirano, Ken-ichi
author_sort Hara, Yasuhiro
collection PubMed
description Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in PNPLA2 encoding adipose triglyceride lipase (ATGL), exhibits severe cardiomyocyte steatosis and heart failure. Here, we report the case of a 51-year-old man with P-TGCV homozygous for a novel PNPLA2 mutation (c.446C > G, P149R) in the catalytic domain of ATGL. Analyses of endomyocardial biopsy specimens and in vitro expression experiments showed mutant protein expression with conserved lipid binding, but reduced lipolytic activity, indicating mutation pathogenicity.
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spelling pubmed-99457972023-02-23 A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy Hara, Yasuhiro Ikeda, Yoshihiko Kimura, Hayato Shimamoto, Shinsaku Ishikawa, Mao Kobayashi, Kunihisa Nagasaka, Hironori Shimoyama, Hisashi Hirano, Ken-ichi Mol Genet Metab Rep Case Report Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in PNPLA2 encoding adipose triglyceride lipase (ATGL), exhibits severe cardiomyocyte steatosis and heart failure. Here, we report the case of a 51-year-old man with P-TGCV homozygous for a novel PNPLA2 mutation (c.446C > G, P149R) in the catalytic domain of ATGL. Analyses of endomyocardial biopsy specimens and in vitro expression experiments showed mutant protein expression with conserved lipid binding, but reduced lipolytic activity, indicating mutation pathogenicity. Elsevier 2023-02-10 /pmc/articles/PMC9945797/ /pubmed/36846631 http://dx.doi.org/10.1016/j.ymgmr.2023.100960 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Hara, Yasuhiro
Ikeda, Yoshihiko
Kimura, Hayato
Shimamoto, Shinsaku
Ishikawa, Mao
Kobayashi, Kunihisa
Nagasaka, Hironori
Shimoyama, Hisashi
Hirano, Ken-ichi
A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
title A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
title_full A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
title_fullStr A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
title_full_unstemmed A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
title_short A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
title_sort novel homozygous missense mutation in pnpla2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9945797/
https://www.ncbi.nlm.nih.gov/pubmed/36846631
http://dx.doi.org/10.1016/j.ymgmr.2023.100960
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