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CoQ10 Enzyme Deficiency...

CoQ10 Enzyme Deficiency Caused by Genetic Mutations

09 Mar 2007
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The genetic mutations led to the generation of non-functional forms of the proteins prenyldiphosphate synthase and OH-benzoate polyprenyltransferase, respectively, which are involved in the production of CoQ10.

09/03/07 Individuals with a deficiency in a protein known as CoQ10 can be grouped into different categories depending on their clinical symptoms. Primary CoQ10 deficiency, that is a deficiency caused by a genetic mutation, can be treated by dietary CoQ10 supplementation. In a study that appears in the March issue of the Journal of Clinical Investigation, Agnès Rötig and colleagues from Hôpital Necker-Enfants Malades, France, have identified two new genetic mutations that cause CoQ10 deficiency. They showed that in one family individuals with a CoQ10 deficiency had a mutation in the gene PDSS1 and that in a second family individuals with a CoQ10 deficiency had a mutation in the gene COQ2. The genetic mutations led to the generation of non-functional forms of the proteins prenyldiphosphate synthase and OH-benzoate polyprenyltransferase, respectively, which are involved in the production of CoQ10. The authors hope that the identification of mutations in these two genes and the future "identification of disease-causing genes in other families will help to elucidate the clinical variability of [CoQ10 deficiency]."
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