Accumulation of αB-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5′-flanking and coding sequence of the genomic DNA
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Abstract
alpha B-Crystallin is a major protein component of Rosenthal fibers, which massively
accumulate in the brains of patients suffering from Alexander's disease. To examine
whether or not accumulation of alpha B-crystallin is due to any abnormality of the
gene structures, we determined the sequence of the alpha B-crystallin gene in two
cases of pathologically confirmed Alexander's disease. Direct sequencing of the promoter
and coding regions of the alpha B-crystallin gene in patients revealed them to have
a normal sequence. Northern blotting showed a single alpha B-crystallin mRNA species
expressed in the Alexander's disease brain.