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一名日本患者因新型复合杂合变异导致线粒体复合物缺乏及其与发育迟缓、隐睾和左心室心肌致密化不全的相关性：病例报告

Mitochondrial complex deficiency by novel compound heterozygous variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report.

作者信息

Hirono Keiichi, Ichida Fukiko, Nishio Natsuhito, Ogawa-Tominaga Minako, Fushimi Takuya, Feichtinger Rene G, Mayr Johannes A, Kohda Masakazu, Kishita Yoshihito, Okazaki Yasushi, Ohtake Akira, Murayama Kei

机构信息

Department of Pediatrics Graduate School of Medicine University of Toyama Toyama Japan.

Department of Pediatrics Ishikawa Prefectural Central Hospital Kanazawa Japan.

出版信息

Clin Case Rep. 2019 Feb 7;7(3):553-557. doi: 10.1002/ccr3.2050. eCollection 2019 Mar.

DOI:10.1002/ccr3.2050
PMID:30899493
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6406168/
Abstract

We identified novel compound heterozygous variants in a Japanese patient who had hyperlactacidemia, metabolic acidosis, hyperalaninemia, developmental delay, undescended testicle, and left ventricular noncompaction. The urinary organic acids profile revealed elevated levels of 3-MGA, and BN-PAGE/Western blotting analysis and ETC. activity confirmed complex V deficiency.

摘要

我们在一名日本患者中鉴定出了新的复合杂合变异，该患者患有高乳酸血症、代谢性酸中毒、高丙氨酸血症、发育迟缓、隐睾和左心室心肌致密化不全。尿有机酸谱显示3 - MGA水平升高，BN - PAGE/蛋白质免疫印迹分析和电子传递链（ETC）活性证实存在复合物V缺乏。

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本文引用的文献

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Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.生化和分子分析在 Leigh 综合征诊断中的临床有效性：106 例日本患者研究。
J Inherit Metab Dis. 2017 Sep;40(5):685-693. doi: 10.1007/s10545-017-0042-6. Epub 2017 Apr 20.
2
Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.因ATP酶6和8蛋白缺失导致线粒体呼吸链复合物V缺乏的快速进展型婴儿心肌病。
Int J Cardiol. 2016 Mar 15;207:203-5. doi: 10.1016/j.ijcard.2016.01.026. Epub 2016 Jan 7.
3
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
线粒体膜的合成、重塑及细胞运输
J Inherit Metab Dis. 2025 Jan;48(1):e12766. doi: 10.1002/jimd.12766. Epub 2024 Jun 14.
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Differential Expression of Nuclear-Encoded Mitochondrial Protein Genes of ATP Synthase Across Different Tissues of Female Buffalo.雌性水牛不同组织中ATP合酶核编码线粒体蛋白基因的差异表达
Mol Biotechnol. 2025 Feb;67(2):705-722. doi: 10.1007/s12033-024-01085-x. Epub 2024 Feb 2.
5
Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat.大鼠中因TMEM70装配因子功能障碍导致的ATP合酶缺乏的基因互补
Biomedicines. 2022 Jan 26;10(2):276. doi: 10.3390/biomedicines10020276.
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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.左心室心肌致密化不全和肥厚型心肌病重叠表型，新型截短 DSC2 突变导致复杂心律失常和心力衰竭。
Orphanet J Rare Dis. 2021 Nov 24;16(1):496. doi: 10.1186/s13023-021-02112-9.
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