Your browser doesn't support javascript.
loading
A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy.
Hara, Yasuhiro; Ikeda, Yoshihiko; Kimura, Hayato; Shimamoto, Shinsaku; Ishikawa, Mao; Kobayashi, Kunihisa; Nagasaka, Hironori; Shimoyama, Hisashi; Hirano, Ken-Ichi.
Afiliação
  • Hara Y; Laboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.
  • Ikeda Y; Laboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.
  • Kimura H; Department of Pathology, National Cerebral and Cardiovascular Center, 6-1, Kishibeshinmachi, Suita, Osaka 564-8565, Japan.
  • Shimamoto S; Department of Pathology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.
  • Ishikawa M; Department of Cardiology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.
  • Kobayashi K; Laboratory of Novel, Non-invasive, and Nutritional Therapeutics (CNT), Department of Triglyceride Science, Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka 565-0874, Japan.
  • Nagasaka H; Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, 1-1-1, Zokumyoin, Chikushino, Fukuoka 818-8502, Japan.
  • Shimoyama H; Department of Pediatrics, Iwate Prefectural Isawa Hospital, 61, Aza Ryugababa, Mizusawa, Ohshu, Iwate 023-0864, Japan.
  • Hirano KI; Department of Cardiology, Itami City Hospital, 1-100, Koyaike, Itami, Hyogo 664-8540, Japan.
Mol Genet Metab Rep ; 34: 100960, 2023 Mar.
Article em En | MEDLINE | ID: mdl-36846631
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.
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão