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.
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页数：4
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