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影响氧化磷酸化的线粒体DNA和核突变：将临床缺陷的严重程度与生物能量受损程度相关联。

MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise.

作者信息

Robinson B H

机构信息

Department of Biochemistry, University of Toronto, Ontario, Canada.

出版信息

J Bioenerg Biomembr. 1994 Jun;26(3):311-6. doi: 10.1007/BF00763102.

DOI:10.1007/BF00763102
PMID:8077184
Abstract

Rates of ATP synthesis were studied in cultured skin fibroblasts treated with digitonin. In fibroblasts from patients with complex I deficiency, complex IV and complex V deficiency rates of ATP synthesis were decreased below the levels found in controls. In mitochondria isolated from cultured lymphoblasts, ATP synthesis was also decreased by 35-50% in cases of Leigh's disease due to complex I, complex IV, or complex V deficiency. Calculating the effect of the mutations in the various complexes on the overall efficiency of oxidative phosphorylation, we show that the mtDNA 8993 mutation which affects the activity of the F1F0 ATPase (complex V) has the strongest effect.

摘要

研究了用洋地黄皂苷处理的培养皮肤成纤维细胞中的ATP合成速率。在患有复合体I缺陷、复合体IV和复合体V缺陷的患者的成纤维细胞中，ATP合成速率低于对照组的水平。在从培养的淋巴细胞中分离出的线粒体中，由于复合体I、复合体IV或复合体V缺陷导致的Leigh病患者，ATP合成也减少了35 - 50%。通过计算各种复合体中的突变对氧化磷酸化总体效率的影响，我们发现影响F1F0 ATP酶（复合体V）活性的线粒体DNA 8993突变具有最强的影响。

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1
MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise.影响氧化磷酸化的线粒体DNA和核突变：将临床缺陷的严重程度与生物能量受损程度相关联。
J Bioenerg Biomembr. 1994 Jun;26(3):311-6. doi: 10.1007/BF00763102.
2
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Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.四名携带线粒体DNA 8993T>C突变的新患者的临床和分子学发现。
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Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.不同类型Leigh综合征患者成纤维细胞的比较生化研究。
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Mitochondrial medicine--molecular pathology of defective oxidative phosphorylation.线粒体医学——氧化磷酸化缺陷的分子病理学
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Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.与线粒体DNA T8993C点突变相关的临床异质性。
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Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: implications for mitochondrial diseases.“二元线粒体异质性”对呼吸作用和ATP合成的影响：对线粒体疾病的启示
Biochem J. 2001 Aug 1;357(Pt 3):835-42. doi: 10.1042/0264-6021:3570835.

引用本文的文献

1
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.位于8993位核苷酸处的线粒体DNA突变显示出缺乏与组织或年龄相关的变异。
J Inherit Metab Dis. 1999 Dec;22(8):899-914. doi: 10.1023/a:1005639407166.
2
Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation.与线粒体DNA T8993G点突变相关的母系遗传 Leigh 综合征（MILS）病例的临床、生化及分子分析
J Inherit Metab Dis. 1995;18(6):682-8. doi: 10.1007/BF02436757.

本文引用的文献

1
Mitochondrial diseases: genotype versus phenotype.线粒体疾病：基因型与表型
Trends Genet. 1993 Apr;9(4):128-33. doi: 10.1016/0168-9525(93)90207-x.
2
The aleu207-->arg mutation in F1F0-ATP synthase from Escherichia coli. A model for human mitochondrial disease.大肠杆菌F1F0 - ATP合酶中aleu207→arg突变。一种人类线粒体疾病模型。
J Biol Chem. 1993 Jun 15;268(17):12250-2.
3
The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria.与NARP相关的8993位点线粒体DNA突变会减缓分离的淋巴母细胞线粒体中ATP的合成速率。
Biochem Biophys Res Commun. 1993 Apr 15;192(1):124-8. doi: 10.1006/bbrc.1993.1390.
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A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.利氏综合征中线粒体ATP酶6基因的第二个错义突变。
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Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.一名先天性乳酸性酸中毒婴儿线粒体还原型烟酰胺腺嘌呤二核苷酸 - 泛醌氧化还原酶（复合体I）铁硫簇缺乏。
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A linear steady-state treatment of enzymatic chains. Critique of the crossover theorem and a general procedure to identify interaction sites with an effector.酶链的线性稳态处理。对交叉定理的批判以及识别与效应物相互作用位点的一般方法。
Eur J Biochem. 1974 Feb 15;42(1):97-105. doi: 10.1111/j.1432-1033.1974.tb03319.x.
9
Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease.NADH辅酶Q还原酶和细胞色素氧化酶中线粒体呼吸链缺陷的临床表现：对Leigh病发病机制的线索
J Pediatr. 1987 Feb;110(2):216-22. doi: 10.1016/s0022-3476(87)80157-9.
10
Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.三名乳酸血症患者培养的皮肤成纤维细胞线粒体中的呼吸链缺陷
J Clin Invest. 1986 May;77(5):1422-7. doi: 10.1172/JCI112453.