在一个存在脂肪甘油三酯脂肪酶基因缺陷累积的村庄出生的两名纯合子之间存在明显的心脏表型。 - Suppr

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

作者信息

Higashi Masahiro, Hirano Ken-ichi, Kobayashi Kazuhiro, Ikeda Yoshihiko, Issiki Ami, Otsuka Tetsuo, Suzuki Akira, Yamaguchi Satoshi, Zaima Nobuhiro, Hamada Seiki, Hanada Hironori, Suzuki Chieko, Nakamura Hiroshi, Nagasaka Hironori, Miyata Toshiyuki, Miyamoto Yoshihiro, Kobayashi Kunihisa, Naito Hiroaki, Toda Tatsushi

机构信息

Department of Radiology, National Cerebral and Cardiovascular Center, Osaka 565-8565, Japan.

Laboratory for Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan; Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka University, Suita, Osaka 565-0871, Japan.

出版信息

Int J Cardiol. 2015 Aug 1;192:30-2. doi: 10.1016/j.ijcard.2015.05.004. Epub 2015 May 6.

DOI:10.1016/j.ijcard.2015.05.004

PMID:25985012

Abstract

摘要

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Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.在一个存在脂肪甘油三酯脂肪酶基因缺陷累积的村庄出生的两名纯合子之间存在明显的心脏表型。

Int J Cardiol. 2015 Aug 1;192:30-2. doi: 10.1016/j.ijcard.2015.05.004. Epub 2015 May 6.

Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy.使用对脂肪甘油三酯脂肪酶缺乏敏感的常规自动血液分析仪检测到外周血白细胞异常，该异常表现为伴有肌病/甘油三酯沉积性心血管病的中性脂质贮积病。

Mol Genet Metab Rep. 2014 May 27;1:249-253. doi: 10.1016/j.ymgmr.2014.05.001. eCollection 2014.

Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy.脂肪甘油三酯脂酶基因突变与甘油三酯沉积性心肌病血管病患者心肌过氧化物酶体增殖物激活受体-γ的上调。

Biochem Biophys Res Commun. 2014 Jan 10;443(2):574-9. doi: 10.1016/j.bbrc.2013.12.003. Epub 2013 Dec 8.

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.PNPLA2 中的一种新突变导致伴有肌病和甘油三酯沉积性心肌病血管病的中性脂质贮积病：一例病例报告及文献复习。

Neuromuscul Disord. 2014 Jul;24(7):634-41. doi: 10.1016/j.nmd.2014.04.001. Epub 2014 Apr 21.

[Triglyceride deposit cardiomyovasculopathy].[甘油三酯沉积性心肌病血管病]

Nihon Rinsho. 2013 Sep;71(9):1676-80.

A novel homozygous missense mutation in in a patient manifesting primary triglyceride deposit cardiomyovasculopathy.一名表现为原发性甘油三酯沉积性心血管病的患者中发现一种新的纯合错义突变。

Mol Genet Metab Rep. 2023 Feb 10;34:100960. doi: 10.1016/j.ymgmr.2023.100960. eCollection 2023 Mar.

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder.甘油三酯沉积性心肌血管病：一种罕见的心血管疾病。

Orphanet J Rare Dis. 2019 Jun 11;14(1):134. doi: 10.1186/s13023-019-1087-4.

A novel clinical entity: triglyceride deposit cardiomyovasculopathy.一种新的临床实体：甘油三酯沉积性心肌血管病。

J Atheroscler Thromb. 2009 Oct;16(5):702-5. doi: 10.5551/jat.1669. Epub 2009 Sep 3.

ATGL Deficiency-Induced Triglyceride Deposit Cardiomyovasculopathy Requiring Heart Transplant: A 5-Year Follow-Up.脂肪甘油三酯脂酶缺乏诱导的需心脏移植的甘油三酯沉积性心血管病：5年随访

JACC Case Rep. 2020 May 20;2(5):760-763. doi: 10.1016/j.jaccas.2020.03.021. eCollection 2020 May.

Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.中性脂质贮积病与 PNPLA2 基因相关：病例报告及文献复习。

Eur Neurol. 2020;83(3):317-322. doi: 10.1159/000508346. Epub 2020 Jun 19.

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Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center.来自中国神经肌肉中心的伴有肌病的中性脂质贮积病的临床病理遗传学特征

Orphanet J Rare Dis. 2025 Jul 1;20(1):322. doi: 10.1186/s13023-025-03861-7.

Dilated cardiomyopathy caused by mutation of the gene: a case report and literature review.基因突引发的扩张型心肌病：一例报告及文献综述

Front Genet. 2024 Jul 25;15:1415156. doi: 10.3389/fgene.2024.1415156. eCollection 2024.

Myocardial fat accumulation is associated with cardiac dysfunction in patients with type 2 diabetes, especially in elderly or female patients: a retrospective observational study.心肌脂肪堆积与 2 型糖尿病患者的心功能障碍有关，尤其是在老年或女性患者中：一项回顾性观察研究。

Cardiovasc Diabetol. 2023 Mar 7;22(1):48. doi: 10.1186/s12933-023-01782-y.

Mol Genet Metab Rep. 2023 Feb 10;34:100960. doi: 10.1016/j.ymgmr.2023.100960. eCollection 2023 Mar.

Neutral lipid storage disease with myopathy: A 10-year follow-up case report.伴有肌病的中性脂质贮积病：一例10年随访病例报告

Eur J Transl Myol. 2022 Jun 17;32(2):10645. doi: 10.4081/ejtm.2022.10645.

Hormone-sensitive lipase protects adipose triglyceride lipase-deficient mice from lethal lipotoxic cardiomyopathy.激素敏感脂肪酶保护脂肪甘油三酯脂肪酶缺乏的小鼠免于致命的脂肪毒性心肌病。

J Lipid Res. 2022 May;63(5):100194. doi: 10.1016/j.jlr.2022.100194. Epub 2022 Mar 11.

A novel mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.一种新型突变导致两名早发型但进展缓慢的严重肌病的NLSDM患者的RNA和蛋白质表达完全丧失。

Genes Dis. 2019 Jul 29;8(1):73-78. doi: 10.1016/j.gendis.2019.07.006. eCollection 2021 Jan.

MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy.miRNAs 作为伴有肌病的中性脂质贮积病表型的生物标志物。

Muscle Nerve. 2020 Feb;61(2):253-257. doi: 10.1002/mus.26761. Epub 2019 Nov 29.

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.中国中性脂肪贮积病伴肌病：一项大型多中心队列研究。

Orphanet J Rare Dis. 2019 Oct 26;14(1):234. doi: 10.1186/s13023-019-1209-z.

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder.甘油三酯沉积性心肌血管病：一种罕见的心血管疾病。

Orphanet J Rare Dis. 2019 Jun 11;14(1):134. doi: 10.1186/s13023-019-1087-4.

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Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

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