Another gene involved in ubiquinone deficiency

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

Am J Hum Genet. 2008 Mar;82(3):623-30.

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and
seizures.

Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N,
Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A.

Investigators rom Paris have studied patients with CoQ10 deficiency from three families (presenting mostly with myopathy and ataxia), and systematically sequenced genes in the ubiquinone biosynthesis pathway. Mutations were found in CABC1, and the mutations were proven to be pathogenic in a yeast model. The role of the protein encoded by this gene is not precisely known yet.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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