Garcia-Corzo 2013 Hum Mol Genet: Difference between revisions
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|title=GarcĂa-Corzo L, Luna-SĂĄnchez M; Doerrier C; GarcĂa JA; GuarĂĄs A; AcĂn-PĂ©rez R; Bullejos-PeregrĂn J; LĂłpez A; Escames G; EnrĂquez JA; Acuña-Castroviejo D; LĂłpez LC (2012) Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.. Hum Mol Genet doi:10.1093/hmg/dds530. | |title=GarcĂa-Corzo L, Luna-SĂĄnchez M; Doerrier C; GarcĂa JA; GuarĂĄs A; AcĂn-PĂ©rez R; Bullejos-PeregrĂn J; LĂłpez A; Escames G; EnrĂquez JA; Acuña-Castroviejo D; LĂłpez LC (2012) Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.. Hum Mol Genet doi:10.1093/hmg/dds530. | ||
|info=http://www.ncbi.nlm.nih.gov/pubmed/23255162 | |info=http://www.ncbi.nlm.nih.gov/pubmed/23255162 | ||
|authors=GarcĂa-Corzo L | |authors=GarcĂa-Corzo L,Luna-SĂĄnchez M,Doerrier C,GarcĂa JA,GuarĂĄs A,AcĂn-PĂ©rez R,Bullejos-PeregrĂn J,LĂłpez A,Escames G,EnrĂquez JA,Acuña-Castroviejo D,LĂłpez LC | ||
|year=2012 | |year=2012 | ||
|journal=Hum Mol Genet | |journal=Hum Mol Genet |
Revision as of 14:00, 7 January 2013
GarcĂa-Corzo L, Luna-SĂĄnchez M; Doerrier C; GarcĂa JA; GuarĂĄs A; AcĂn-PĂ©rez R; Bullejos-PeregrĂn J; LĂłpez A; Escames G; EnrĂquez JA; Acuña-Castroviejo D; LĂłpez LC (2012) Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency.. Hum Mol Genet doi:10.1093/hmg/dds530. |
» http://www.ncbi.nlm.nih.gov/pubmed/23255162
GarcĂa-Corzo L, Luna-SĂĄnchez M, Doerrier C, GarcĂa JA, GuarĂĄs A, AcĂn-PĂ©rez R, Bullejos-PeregrĂn J, LĂłpez A, Escames G, EnrĂquez JA, Acuña-Castroviejo D, LĂłpez LC (2012) Hum Mol Genet
Abstract: Coenzyme Q10 (CoQ(10)) or ubiquinone is a well-known component of the mitochondrial respiratory chain. In humans, CoQ(10) deficiency causes a mitochondrial syndrome with an unexplained variability in the clinical presentations. To try to understand this heterogeneity in the clinical phenotypes, we have generated a Coq9 Knockin (R239X) mouse model. The lack of a functional Coq9 protein in homozygous Coq9 mutant (Coq9(X/X)) mice causes a severe reduction in the Coq7 protein and, as consequence, a widespread CoQ deficiency and accumulation of demethoxyubiquinone. The deficit in CoQ induces a brain-specific impairment of mitochondrial bioenergetics performance, a reduction in respiratory control ratio, ATP levels and ATP/ADP ratio and specific loss of respiratory complex I. These effects lead to neuronal death and demyelinization with severe vacuolization and astrogliosis in the brain of Coq9(X/X) mice that consequently die between 3 and 6 months of age. These results suggest that the instability of mitochondrial complex I in the brain, as a primary event, triggers the development of mitochondrial encephalomyopathy associated with CoQ deficiency.
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