Cargando…
Association between genetic variants in the Coenzyme Q(10 )metabolism and Coenzyme Q(10 )status in humans
BACKGROUND: Coenzyme Q(10 )(CoQ(10)) is essential for mitochondrial energy production and serves as an antioxidants in extra mitochondrial membranes. The genetics of primary CoQ(10 )deficiency has been described in several studies, whereas the influence of common genetic variants on CoQ(10 )status i...
Autores principales: | , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160390/ https://www.ncbi.nlm.nih.gov/pubmed/21774831 http://dx.doi.org/10.1186/1756-0500-4-245 |
_version_ | 1782210550969663488 |
---|---|
author | Fischer, Alexandra Schmelzer, Constance Rimbach, Gerald Niklowitz, Petra Menke, Thomas Döring, Frank |
author_facet | Fischer, Alexandra Schmelzer, Constance Rimbach, Gerald Niklowitz, Petra Menke, Thomas Döring, Frank |
author_sort | Fischer, Alexandra |
collection | PubMed |
description | BACKGROUND: Coenzyme Q(10 )(CoQ(10)) is essential for mitochondrial energy production and serves as an antioxidants in extra mitochondrial membranes. The genetics of primary CoQ(10 )deficiency has been described in several studies, whereas the influence of common genetic variants on CoQ(10 )status is largely unknown. Here we tested for non-synonymous single-nucleotidepolymorphisms (SNP) in genes involved in the biosynthesis (CoQ3(G272S ), CoQ6(M406V), CoQ7(M103T)), reduction (NQO1(P187S), NQO2(L47F)) and metabolism (apoE3/4) of CoQ(10 )and their association with CoQ(10 )status. For this purpose, CoQ(10 )serum levels of 54 healthy male volunteers were determined before (T(0)) and after a 14 days supplementation (T(14)) with 150 mg/d of the reduced form of CoQ(10). FINDINGS: At T(0), the CoQ(10 )level of heterozygous NQO1(P187S )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, CoQ(10 )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 = 0.034). Likewise heterozygous CoQ3(G272S )carriers had higher CoQ(10 )plasma levels at T(14 )compared to G/G carriers but this difference did not reach significance (5.30 ± 0.96 μM versus 4.42 ± 1.67 μM, p = 0.082). CONCLUSIONS: In conclusion, our pilot study provides evidence that NQO1(P187S )and apoE polymorphisms influence CoQ(10 )status in humans. |
format | Online Article Text |
id | pubmed-3160390 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-31603902011-08-24 Association between genetic variants in the Coenzyme Q(10 )metabolism and Coenzyme Q(10 )status in humans Fischer, Alexandra Schmelzer, Constance Rimbach, Gerald Niklowitz, Petra Menke, Thomas Döring, Frank BMC Res Notes Short Report BACKGROUND: Coenzyme Q(10 )(CoQ(10)) is essential for mitochondrial energy production and serves as an antioxidants in extra mitochondrial membranes. The genetics of primary CoQ(10 )deficiency has been described in several studies, whereas the influence of common genetic variants on CoQ(10 )status is largely unknown. Here we tested for non-synonymous single-nucleotidepolymorphisms (SNP) in genes involved in the biosynthesis (CoQ3(G272S ), CoQ6(M406V), CoQ7(M103T)), reduction (NQO1(P187S), NQO2(L47F)) and metabolism (apoE3/4) of CoQ(10 )and their association with CoQ(10 )status. For this purpose, CoQ(10 )serum levels of 54 healthy male volunteers were determined before (T(0)) and after a 14 days supplementation (T(14)) with 150 mg/d of the reduced form of CoQ(10). FINDINGS: At T(0), the CoQ(10 )level of heterozygous NQO1(P187S )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, CoQ(10 )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 = 0.034). Likewise heterozygous CoQ3(G272S )carriers had higher CoQ(10 )plasma levels at T(14 )compared to G/G carriers but this difference did not reach significance (5.30 ± 0.96 μM versus 4.42 ± 1.67 μM, p = 0.082). CONCLUSIONS: In conclusion, our pilot study provides evidence that NQO1(P187S )and apoE polymorphisms influence CoQ(10 )status in humans. BioMed Central 2011-07-21 /pmc/articles/PMC3160390/ /pubmed/21774831 http://dx.doi.org/10.1186/1756-0500-4-245 Text en Copyright ©2011 Döring et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Report Fischer, Alexandra Schmelzer, Constance Rimbach, Gerald Niklowitz, Petra Menke, Thomas Döring, Frank Association between genetic variants in the Coenzyme Q(10 )metabolism and Coenzyme Q(10 )status in humans |
title | Association between genetic variants in the Coenzyme Q(10 )metabolism and Coenzyme Q(10 )status in humans |
title_full | Association between genetic variants in the Coenzyme Q(10 )metabolism and Coenzyme Q(10 )status in humans |
title_fullStr | Association between genetic variants in the Coenzyme Q(10 )metabolism and Coenzyme Q(10 )status in humans |
title_full_unstemmed | Association between genetic variants in the Coenzyme Q(10 )metabolism and Coenzyme Q(10 )status in humans |
title_short | Association between genetic variants in the Coenzyme Q(10 )metabolism and Coenzyme Q(10 )status in humans |
title_sort | association between genetic variants in the coenzyme q(10 )metabolism and coenzyme q(10 )status in humans |
topic | Short Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160390/ https://www.ncbi.nlm.nih.gov/pubmed/21774831 http://dx.doi.org/10.1186/1756-0500-4-245 |
work_keys_str_mv | AT fischeralexandra associationbetweengeneticvariantsinthecoenzymeq10metabolismandcoenzymeq10statusinhumans AT schmelzerconstance associationbetweengeneticvariantsinthecoenzymeq10metabolismandcoenzymeq10statusinhumans AT rimbachgerald associationbetweengeneticvariantsinthecoenzymeq10metabolismandcoenzymeq10statusinhumans AT niklowitzpetra associationbetweengeneticvariantsinthecoenzymeq10metabolismandcoenzymeq10statusinhumans AT menkethomas associationbetweengeneticvariantsinthecoenzymeq10metabolismandcoenzymeq10statusinhumans AT doringfrank associationbetweengeneticvariantsinthecoenzymeq10metabolismandcoenzymeq10statusinhumans |