Details

Autor(en) / Beteiligte

• Hara, Yasuhiro
• Ikeda, Yoshihiko
• Kimura, Hayato
• Shimamoto, Shinsaku
• Ishikawa, Mao
• Kobayashi, Kunihisa
• Nagasaka, Hironori
• Shimoyama, Hisashi
• Hirano, Ken-ichi

Titel

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

Ist Teil von

• Molecular genetics and metabolism reports, 2023-03, Vol.34, p.100960, Article 100960

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2023

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.