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The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.

Luna-Sánchez M, Díaz-Casado E, Barca E, Tejada MÁ, Montilla-García Á, Cobos EJ, Escames G, Acuña-Castroviejo D, Quinzii CM, López LC - EMBO Mol Med (2015)

Bottom Line: Primary coenzyme Q10 (CoQ10) deficiency is due to mutations in genes involved in CoQ biosynthesis.The disease has been associated with five major phenotypes, but a genotype-phenotype correlation is unclear.Our study points out the importance of the multiprotein complex for CoQ biosynthesis in mammals, which may provide new insights to understand the genotype-phenotype heterogeneity associated with human CoQ deficiency and may have a potential impact on the treatment of this mitochondrial disorder.

View Article: PubMed Central - PubMed

Affiliation: Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada, Spain Centro de Investigación Biomédica, Instituto de Biotecnología, Parque Tecnológico de Ciencias de la Salud, Granada, Spain.

No MeSH data available.


Related in: MedlinePlus

Coq9Q95X mice showed moderate CoQ deficiencyA–F CoQ9 levels in tissue homogenates from brain (A), cerebellum (B), heart (C), kidney (D), extensor (E) and triceps surae (F) of male and female Coq9+/+ and Coq9Q95X mice at 6 and 12 months of age. Data are expressed as mean ± SD. Statistical analysis was performed on 6-month-old Coq9+/+ mice versus 6-month-old Coq9Q95X mice and 12-month-old Coq9+/+ mice versus 12-month-old Coq9Q95X mice. **P < 0.01; ***P < 0.001. Student's t-test (n = 8 for each group).Source data are available online for this figure.
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fig02: Coq9Q95X mice showed moderate CoQ deficiencyA–F CoQ9 levels in tissue homogenates from brain (A), cerebellum (B), heart (C), kidney (D), extensor (E) and triceps surae (F) of male and female Coq9+/+ and Coq9Q95X mice at 6 and 12 months of age. Data are expressed as mean ± SD. Statistical analysis was performed on 6-month-old Coq9+/+ mice versus 6-month-old Coq9Q95X mice and 12-month-old Coq9+/+ mice versus 12-month-old Coq9Q95X mice. **P < 0.01; ***P < 0.001. Student's t-test (n = 8 for each group).Source data are available online for this figure.

Mentions: The consequence of the lack of the COQ9 protein was a significant decrease of both CoQ9 (the major form of ubiquinone in rodents) and CoQ10 levels in all examined tissues (cerebrum, cerebellum, heart, kidney, extensor and triceps surae) of Coq9Q95X mice compared with the age-mated Coq9+/+mice (Fig2A–F and Supplementary Fig S3A–F). While CoQ9 levels were around 50% in cerebrum, cerebellum and heart (Fig2A–C), kidney and skeletal muscle had 30% of residual CoQ9 levels compared with wild-type animals (Fig2D–F).


The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene.

Luna-Sánchez M, Díaz-Casado E, Barca E, Tejada MÁ, Montilla-García Á, Cobos EJ, Escames G, Acuña-Castroviejo D, Quinzii CM, López LC - EMBO Mol Med (2015)

Coq9Q95X mice showed moderate CoQ deficiencyA–F CoQ9 levels in tissue homogenates from brain (A), cerebellum (B), heart (C), kidney (D), extensor (E) and triceps surae (F) of male and female Coq9+/+ and Coq9Q95X mice at 6 and 12 months of age. Data are expressed as mean ± SD. Statistical analysis was performed on 6-month-old Coq9+/+ mice versus 6-month-old Coq9Q95X mice and 12-month-old Coq9+/+ mice versus 12-month-old Coq9Q95X mice. **P < 0.01; ***P < 0.001. Student's t-test (n = 8 for each group).Source data are available online for this figure.
© Copyright Policy - open-access
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4492823&req=5

fig02: Coq9Q95X mice showed moderate CoQ deficiencyA–F CoQ9 levels in tissue homogenates from brain (A), cerebellum (B), heart (C), kidney (D), extensor (E) and triceps surae (F) of male and female Coq9+/+ and Coq9Q95X mice at 6 and 12 months of age. Data are expressed as mean ± SD. Statistical analysis was performed on 6-month-old Coq9+/+ mice versus 6-month-old Coq9Q95X mice and 12-month-old Coq9+/+ mice versus 12-month-old Coq9Q95X mice. **P < 0.01; ***P < 0.001. Student's t-test (n = 8 for each group).Source data are available online for this figure.
Mentions: The consequence of the lack of the COQ9 protein was a significant decrease of both CoQ9 (the major form of ubiquinone in rodents) and CoQ10 levels in all examined tissues (cerebrum, cerebellum, heart, kidney, extensor and triceps surae) of Coq9Q95X mice compared with the age-mated Coq9+/+mice (Fig2A–F and Supplementary Fig S3A–F). While CoQ9 levels were around 50% in cerebrum, cerebellum and heart (Fig2A–C), kidney and skeletal muscle had 30% of residual CoQ9 levels compared with wild-type animals (Fig2D–F).

Bottom Line: Primary coenzyme Q10 (CoQ10) deficiency is due to mutations in genes involved in CoQ biosynthesis.The disease has been associated with five major phenotypes, but a genotype-phenotype correlation is unclear.Our study points out the importance of the multiprotein complex for CoQ biosynthesis in mammals, which may provide new insights to understand the genotype-phenotype heterogeneity associated with human CoQ deficiency and may have a potential impact on the treatment of this mitochondrial disorder.

View Article: PubMed Central - PubMed

Affiliation: Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada, Spain Centro de Investigación Biomédica, Instituto de Biotecnología, Parque Tecnológico de Ciencias de la Salud, Granada, Spain.

No MeSH data available.


Related in: MedlinePlus