Promotional banner with text about biosolutions for gut health, featuring a smiling person and a “See all products” call-to-action.
Home
CoQ10 Enzyme Deficiency...

CoQ10 Enzyme Deficiency Caused by Genetic Mutations

09 Mar 2007
Add nutritioninsight as a preferred source on Google
Image

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]."
arrow

All content and features on this website are copyrighted with all rights reserved. The full details can be found in our privacy statement
Add nutritioninsight as a preferred source on Google
Subscribe to our newsletters
PlatformsFood Ingredients FirstNutrition InsightPackaging InsightsPersonal Care InsightsThe World of Food Ingredients
About usContact usAdvertisingPrivacy statementSitemapArchive
Follow us
linkedinrss_headergoogle_news
Image