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NEUROLOGY 1993;43:1414
© 1993 American Academy of Neurology

Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency

H. Miyajima, MD, Y. Takahashi, MD, M. Suzuki, MD, T. Shimizu, MD and E. Kaneko, MD

First Department of Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Recurrent rhabdomyolysis due to decreased glycolysis occurred during strenuous exercise in patients with lactate dehydrogenase-A-subunit (LDH-A; muscle) deficiency. Enzyme activities of LDH in the muscle were decreased less than 8% of the control value. The isozyme pattern revealed only one band of B4. The level of LDH-A mRNA was not decreased. The direct sequencing of the reverse transcription-polymerase chain reaction product that corresponds to exon 6 revealed a deletion of 20 nucleotides. Immunofluorescence staining showed the presence of LDH-A protein within the cytoplasm. These findings suggest that an incomplete LDH-A protein lacking the subunit contact subdomain could not assemble into a tetrameric structure that has an enzymatic activity.

Address correspondence and reprint requests to Dr. H. Miyajima, The First Department of Medicine, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu 431-31, Japan.

Received September 3, 1992. Accepted for publication in final form November 3, 1992.






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