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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 at 21 postnatal days and analysis of COQ9 proteinCoq9Q95X mice at 21 postnatal days showing the loss of corporal hair.Representative Western blot images of COQ9 protein in kidney homogenate from Coq9+/+ (n = 4) and Coq9Q95X mice (n = 4) at 3 months of age. Antibody sc-271892 was used to map the C-terminal region of the COQ9 protein and antibody ab-104189 was used to map the internal sequence of the COQ9 protein.High-resolution LC-MS/MS proteomic analysis of kidney mitochondria from Coq9+/+ (n = 3) and Coq9Q95X mice (n = 3) at 3 months of age. None of the six peptides of the COQ9 protein identified in Coq9+/+ mice was detected in Coq9Q95X mice.Source data are available online for this figure.
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fig01: Coq9Q95X mice at 21 postnatal days and analysis of COQ9 proteinCoq9Q95X mice at 21 postnatal days showing the loss of corporal hair.Representative Western blot images of COQ9 protein in kidney homogenate from Coq9+/+ (n = 4) and Coq9Q95X mice (n = 4) at 3 months of age. Antibody sc-271892 was used to map the C-terminal region of the COQ9 protein and antibody ab-104189 was used to map the internal sequence of the COQ9 protein.High-resolution LC-MS/MS proteomic analysis of kidney mitochondria from Coq9+/+ (n = 3) and Coq9Q95X mice (n = 3) at 3 months of age. None of the six peptides of the COQ9 protein identified in Coq9+/+ mice was detected in Coq9Q95X mice.Source data are available online for this figure.

Mentions: Coq9Q95X mice pups had normal development and were indistinguishable from wild-type mice (Coq9+/+). As described in the Coq9R239X, by postnatal day 21, Coq9Q95X mice had also lost their body hair (Fig1A), which grew back during the next hair growth cycle.


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 at 21 postnatal days and analysis of COQ9 proteinCoq9Q95X mice at 21 postnatal days showing the loss of corporal hair.Representative Western blot images of COQ9 protein in kidney homogenate from Coq9+/+ (n = 4) and Coq9Q95X mice (n = 4) at 3 months of age. Antibody sc-271892 was used to map the C-terminal region of the COQ9 protein and antibody ab-104189 was used to map the internal sequence of the COQ9 protein.High-resolution LC-MS/MS proteomic analysis of kidney mitochondria from Coq9+/+ (n = 3) and Coq9Q95X mice (n = 3) at 3 months of age. None of the six peptides of the COQ9 protein identified in Coq9+/+ mice was detected in Coq9Q95X mice.Source data are available online for this figure.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4492823&req=5

fig01: Coq9Q95X mice at 21 postnatal days and analysis of COQ9 proteinCoq9Q95X mice at 21 postnatal days showing the loss of corporal hair.Representative Western blot images of COQ9 protein in kidney homogenate from Coq9+/+ (n = 4) and Coq9Q95X mice (n = 4) at 3 months of age. Antibody sc-271892 was used to map the C-terminal region of the COQ9 protein and antibody ab-104189 was used to map the internal sequence of the COQ9 protein.High-resolution LC-MS/MS proteomic analysis of kidney mitochondria from Coq9+/+ (n = 3) and Coq9Q95X mice (n = 3) at 3 months of age. None of the six peptides of the COQ9 protein identified in Coq9+/+ mice was detected in Coq9Q95X mice.Source data are available online for this figure.
Mentions: Coq9Q95X mice pups had normal development and were indistinguishable from wild-type mice (Coq9+/+). As described in the Coq9R239X, by postnatal day 21, Coq9Q95X mice had also lost their body hair (Fig1A), which grew back during the next hair growth cycle.

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