Accumulation of alpha B-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

Neurosci Lett. 1992 Jun 8;140(1):89-92. doi: 10.1016/0304-3940(92)90689-5.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Northern
  • Child
  • Crystallins / genetics*
  • Crystallins / metabolism*
  • DNA / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / metabolism*
  • Female
  • Genes*
  • Humans
  • Male
  • Molecular Sequence Data
  • Nerve Fibers / metabolism
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction / methods
  • Promoter Regions, Genetic*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism

Substances

  • Crystallins
  • Oligodeoxyribonucleotides
  • RNA, Messenger
  • DNA