Genetic Mutations Cause CoQ10 Enzyme Deficiency

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Genetic Mutations Cause CoQ10 Enzyme Deficiency

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

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.