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

ABSTRACT: 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.

SUBMITTER: Hara Y 

PROVIDER: S-EPMC9945797 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature

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A novel homozygous missense mutation in <i>PNPLA2</i> in a patient manifesting primary triglyceride deposit cardiomyovasculopathy.

Hara Yasuhiro Y   Ikeda Yoshihiko Y   Kimura Hayato H   Shimamoto Shinsaku S   Ishikawa Mao M   Kobayashi Kunihisa K   Nagasaka Hironori H   Shimoyama Hisashi H   Hirano Ken-Ichi KI  

Molecular genetics and metabolism reports 20230210

Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in <i>PNPLA2</i> 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 <i>PNPLA2</i> mutation (c.446C > G, P149R) in the catalytic domain of ATGL. Analyses of endomyocardial biopsy specimens and <i>in vitro</i> expression experiments showed mutant protein expression with co  ...[more]

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