原创力文档association between genetic variants in the coenzyme q10 metabolism and coenzyme q10 status in humans协会之间的遗传变异的辅酶q10新陈代谢和辅酶q10在人类状态.pdfVIP
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association between genetic variants in the coenzyme q10 metabolism and coenzyme q10 status in humans协会之间的遗传变异的辅酶q10新陈代谢和辅酶q10在人类状态
Fischer et al. BMC Research Notes 2011, 4:245
/1756-0500/4/245
SHORT REPORT Open Access
Association between genetic variants in the
Coenzyme Q10 metabolism and Coenzyme Q10
status in humans
1 1 2 3 3 1*
Alexandra Fischer , Constance Schmelzer , Gerald Rimbach , Petra Niklowitz , Thomas Menke and Frank Döring
Abstract
Background: Coenzyme Q10 (CoQ10) is essential for mitochondrial energy production and serves as an antioxidants
in extra mitochondrial membranes. The genetics of primary CoQ10 deficiency has been described in several studies,
whereas the influence of common genetic variants on CoQ10 status is largely unknown. Here we tested for non-
synonymous single-nucleotidepolymorphisms (SNP) in genes involved in the biosynthesis (CoQ3G272S , CoQ6M406V,
CoQ7M103T), reduction (NQO1P187S, NQO2L47F) and metabolism (apoE3/4) of CoQ10 and their association with CoQ10
status. For this purpose, CoQ serum levels of 54 healthy male volunteers were determined before (T ) and after a
10 0
14 days supplementation (T14) with 150 mg/d of the reduced form of CoQ10.
Findings: At T0, the CoQ10 level of heterozygous NQO1P187S carriers were significantly lower than homozygous S/S
carriers (0.93 ± 0.25 μM versus 1.34 ± 0.42 μM, p = 0.044). For this polymorphism a structure homology-based
method (PolyPhen) revealed a possibly damaging effect on NQO1 protein activity. Furthermore, CoQ10 plasma
levels were significantly increased in apoE4/E4 genotype after supplementation in comparison to apoE2/E3
genotype (5.93 ± 0.151 μM versus 4.38 ± 0.792 μM, p = 0.0
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