Analysis of functional consequences of haplogroup J polymorphisms m.4216T > C and m.3866T > C in human MT-ND1: Mutagenesis of homologous positions in Escherichia coli

被引：7
|
作者：
Hinttala, Reetta [1 ,2 ]
Kervinen, Marko [3 ,4 ]
Uusimaa, Johanna [1 ,2 ]
Maliniemi, Pilvi [3 ]
Finnila, Saara [1 ]
Rantala, Heikki [1 ]
Remes, Anne M. [1 ,2 ]
Hassinen, Ilmo E. [3 ]
Majamaa, Kari [1 ,2 ]
机构：
[1] Univ Oulu, Dept Clin Med, Oulu 90014, Finland
[2] Oulu Univ Hosp, Clin Res Ctr, Oulu 90014, Finland
[3] Univ Oulu, Dept Biomed Med Biochem & Mol Biol, Oulu 90014, Finland
[4] Univ Oulu, Dept Clin Med, Oulu 90014, Finland
来源：
MITOCHONDRION | 2010年 / 10卷 / 04期
基金：
芬兰科学院;
关键词：
NADH dehydrogenase; Complex I deficiency; Mitochondrial DNA; Site-directed mutagenesis; HEREDITARY OPTIC NEUROPATHY; MITOCHONDRIAL COMPLEX-I; UBIQUINONE OXIDOREDUCTASE; PARKINSONS-DISEASE; SEQUENCE-ANALYSIS; INCREASED RISK; SUBUNIT NUOH; NDH-1; NADH; MUTATIONS;
D O I：
10.1016/j.mito.2010.02.002
中图分类号：
Q2 [细胞生物学];
学科分类号：
071009 ; 090102 ;
摘要：
MtDNA sequence variation is presumed to be neutral in effect, but associations with diseases and mtDNA haplogroups have been reported. The aim here was to evaluate the functional consequences of m.4216T > C present in haplogroup J. Furthermore, we evaluated m.3866T > C in MT-ND1, a variant detected in a child belonging to haplogroup J and with an isolated complex I deficiency. Homologous substitutions were introduced into Escherichia coli. NADH dehydrogenase domain activity of NDH-1 with either one or both mutations was markedly decreased suggesting that m.4216T > C and m.3866T > C may have an effect on the structural integrity of complex I. (C) 2010 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
引用
收藏
页码：358 / 361
页数：4
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