The pathogenic role of point mutations affecting the translational initiation codon of mitochondrial genes

被引：7

作者：

Fernández-Moreno, MA

Bornstein, B

Campos, Y

Arenas, J

Garesse, R

机构：

[1] UAM, CSIC, Inst Invest Biomed Alberto Sols, Dept Bioquim, Madrid, Spain

[2] Hosp Severo Ochoa, Madrid, Spain

[3] Univ Madrid, Hosp 12 Octubre, Ctr Invest, Madrid 3, Spain

来源：

MOLECULAR GENETICS AND METABOLISM | 2000年 / 70卷 / 03期

关键词：

mtDNA mutation; ND1; gene; mitochondrial translation; mtDNA T3308C mutation;

D O I：

10.1006/mgme.2000.3005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The mutation T3308C results in a Met --> Thr change at the highly conserved amino acid position 1 of the mtDNA ND1 gene (M1T). To study its potential pathogenic effect we have carried out a combination of mitochondrial protein synthesis and Northern and Western analyses. Our data demonstrate that M1T mutation does not affect the efficiency of the synthesis of the ND1 polypeptide and suggest that any codon specifying methionine located close to the 5' end of mitochondrial mRNAs may be used as translational initiator. (C) 2000 Academic Press.

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页码：238 / 240

页数：3

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