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Thread: Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD.

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    Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD.

    Hum Hered. 1999 Jul;49(4):190-3


    Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD.Van Landeghem GF, Tabatabaie P, Kucinskas V, Saha N, Beckman G.
    Department of Medical Genetics, Umea University, Umea, Sweden.

    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.

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    AW: Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD.

    Extended complete version :

    http://content.karger.com/ProdukteDB...name=22873.pdf

    Quote Originally Posted by Discussion
    A representative example of an OLA result is shown in
    table 1. The crucial factor for a successful assay was the
    quality of the PCR product. The use of duplicate samples
    was necessary to minimize erroneous typing (10% had to
    be retyped). The main advantages of OLA are that it is
    relatively fast (24 samples typed in less than 3 h) and that
    no electrophoretic step is needed, making it amenable to
    automation for screening purposes.
    Table 2 shows the genotypes and the Ala allele frequencies
    in different ethnic populations. The samples were in
    good agreement with the Hardy-Weinberg equilibrium
    except for the Lithuanians (p = 0.023). This deviation is
    probably due to chance (not significant after Bonferroni
    correction), since no deviations from the Hardy-Weinberg
    equilibrium have been noted for other polymorphisms
    in this population sample. Furthermore, typing
    errors are unlikely due to the use of controls and duplicate
    samples.
    The Ala allele frequency was significantly higher in
    Saamis compared to other populations except Lithuanians
    and significantly lower in Chinese individuals compared
    with all populations except Swedes (table 3). The
    low Ala frequency in Chinese subjects indicates that the
    Ala frequency may be low in Asiatic populations, which is
    in agreement with a previous report on a low Ala frequency
    in Japanese subjects [13].
    There were also significant variations between the different
    European populations representing three different
    language groups: Baltic (Lithuanians), Finnic (Finns and
    Saamis) and Germanic (Swedes). Saamis tend to differ
    from other European populations in virtually all genetic
    marker systems studied [17], and also the difference
    between Swedish Saamis and Swedes in the MnSOD
    polymorphism was highly significant (p = 9W10–6). The
    somewhat higher Ala allele frequency in Finns compared
    with Swedes may be due to Saamish influence.
    Since only a few populations have been studied with
    respect to the MnSOD polymorphism, it is not possible to
    discern any general trends other than a likely decrease of
    the Alu allele in Asia. Since the Ala-9Val mutation is predicted
    to influence the enzyme’s targeting rate to the mitochondria,
    one may speculate that the polymorphism is
    maintained by selective forces. It may also play a role in
    multifactorial late-onset diseases. Indeed, even comparatively
    small differences in targeting rates may have a cumulative
    effect in diseases such as motor neuron disease and
    Parkinson’s disease, two disorders frequently associated
    with defects in defense mechanisms against radical formation.
    A study on the Ala-9Val polymorphism in motor neuron
    disease and controls has, e.g., revealed an increased
    risk in homozygotes for the Ala alleles [unpubl. data].
    Die schlechtesten Früchte sind es nicht, woran die Wespen nagen.

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