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

被引：1

作者：

Hara, Yasuhiro ^{[1
]}

Ikeda, Yoshihiko ^{[1
,2
]}

Kimura, Hayato ^{[3
]}

Shimamoto, Shinsaku ^{[4
]}

Ishikawa, Mao ^{[1
]}

Kobayashi, Kunihisa ^{[5
]}

Nagasaka, Hironori ^{[6
]}

Shimoyama, Hisashi ^{[4
]}

Hirano, Ken-ichi ^{[1
]}

机构：

[1] Osaka Univ, Grad Sch Med, Dept Triglyceride Sci, Lab Novel Noninvas & Nutr Therapeut CNT, 6-2-4 Furuedai, Suita, Osaka 5650874, Japan

[2] Natl Cerebral & Cardiovasc Ctr, Dept Pathol, 6-1 Kishibeshinmachi, Suita, Osaka 5648565, Japan

[3] Itami City Hosp, Dept Pathol, 1-100 Koyaike, Itami, Hyogo 6648540, Japan

[4] Itami City Hosp, Dept Cardiol, 1-100 Koyaike, Itami, Hyogo 6648540, Japan

[5] Fukuoka Univ, Dept Endocrinol & Diabet Mellitus, Chikushi Hosp, 1-1-1 Zokumyoin, Chikushino, Fukuoka 8188502, Japan

[6] Iwate Prefectural Isawa Hosp, Dept Pediat, 61 Aza Ryugababa, Ohshu, Iwate 0230864, Japan

来源：

MOLECULAR GENETICS AND METABOLISM REPORTS | 2023年 / 34卷

关键词：

Adipose triglyceride lipase; Heart failure; Mutation; Triglyceride deposit cardiomyovasculopathy; PNPLA2; LIPID STORAGE DISEASE; GENETIC DEFICIENCY; LIPASE;

D O I：

10.1016/j.ymgmr.2023.100960

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：4

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