Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency

We describe two unrelated patients with pyruvate dehydrogenase (PDH) deficiency attributable to mutations in the gene encoding the E1beta subunit of the complex. This is a previously unrecognised form of PDH deficiency, which most commonly results from mutations in the X-linked gene for the E1alpha...

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Bibliographic Details
Published in:Human genetics 2004-07, Vol.115 (2), p.123-127
Main Authors: Brown, Ruth M, Head, Rosemary A, Boubriak, Ivan I, Leonard, James V, Thomas, Neil H, Brown, Garry K
Format: Article
Language:English
Subjects:
Humans
Infant
Male
Models, Genetic
Models, Molecular
Mutation
Protein Structure, Secondary
Pyruvate Dehydrogenase Complex - genetics
Pyruvate Dehydrogenase Complex Deficiency Disease - genetics
Transfection
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Summary:We describe two unrelated patients with pyruvate dehydrogenase (PDH) deficiency attributable to mutations in the gene encoding the E1beta subunit of the complex. This is a previously unrecognised form of PDH deficiency, which most commonly results from mutations in the X-linked gene for the E1alpha subunit. Both patients had reduced immunoreactive E1beta protein and both had missense mutations in the E1beta gene. Activity of the PDH complex was restored in cultured fibroblasts from both patients by transfection and expression of the normal E1beta coding sequence.
ISSN:0340-6717