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.

• Authors: Yasuhiro Hara, Yoshihiko Ikeda, Hayato Kimura, Shinsaku Shimamoto, Mao Ishikawa, Kunihisa Kobayashi, Hironori Nagasaka, Hisashi Shimoyama, Ken-Ichi Hirano
• Journal: Molecular genetics and metabolism reports (Mol Genet Metab Rep) Vol. 34 Pg. 100960 (Mar 2023) ISSN: 2214-4269 [Print] United States
• PMID: 36846631 (Publication Type: Case Reports)
• Copyright: © 2023 The Authors.