Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD

被引：42

作者：

Van Landeghem, GF ^{[1
]}

Tabatabaie, P

Kucinskas, V

Saha, N

Beckman, G

机构：

[1] Umea Univ, Dept Med Genet, S-90185 Umea, Sweden

[2] Vilnius State Univ, Ctr Human Genet, Vilnius, Lithuania

[3] Gotland Univ Coll, Visby, Sweden

[4] Univ Singapore, Dept Pediat, Div Genet, Singapore, Singapore

来源：

HUMAN HEREDITY | 1999年 / 49卷 / 04期

关键词：

MnSOD; polymorphism; ethnic heterogeneity; oligonucleotide ligation assay;

D O I：

10.1159/000022873

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In contrast to CuZn superoxide dismutase (SOD), only a very limited number of mutations have been described in MnSOD, One interesting example is a polymorphism (Ala-9Val) in the mitochondrial targeting sequence of this radical-scavenging enzyme. We have studied the Ala-9Val polymorphism in various ethnic groups by means of the oligonucleotide ligation assay. There were significant variations in this unique polymorphism between three different language groups: Baltic (Lithuanians), Finnic (Finns and Saamis) and Germanic (Swedes), The Ala frequency in an Asiatic population (Chinese) was significantly lower than in most European populations. This polymorphism may affect the mitochondrial targeting rate of MnSOD which may result in mitochondrial damage with implication in various late-onset neurological diseases.

引用

页码：190 / 193

页数：4

共 17 条

[1] Human mitochondrial manganese superoxide dismutase polymorphic variant Ile58Thr reduces activity by destabilizing the tetrameric interface [J].