Genetic Mutations Cause CoQ10 Enzyme Deficiency
Main Category: Genetics News
Article Date: 07 Mar 2007 - 7:00 PDT

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]."

In an accompanying commentary, Salvatore DiMauro and colleagues from Columbia University, New York, describe how the field has moved forward relatively slowly since the initial description of individuals with a CoQ10 deficiency in 1989, and discuss how these data and other recent findings have injected new hope that CoQ10 deficiency can be detected early and be treated with dietary CoQ10.

TITLE: Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

AUTHOR CONTACT:
Agnès Rötig
Hôpital Necker-Enfants Malades, Paris, France.

TITLE: Mutations in coenzyme Q10 biosynthetic genes

AUTHOR CONTACT:
Salvatore DiMauro
Columbia University Medical Center, New York, New York, USA.

###

JCI table of contents -- March 1, 2007

Contact: Karen Honey
Journal of Clinical Investigation

 

http://www.medicalnewstoday.com/medicalnews.php?newsid=64369&nfid=rssfeeds

      <----back