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Arch Neurol. 2001 Jun;58(6):921-7.

Cellular distribution of torsin A and torsin B in normal human brain.

Author information

  • 1Division of Neurology, Cedars-Sinai Medical Center, UCLA School of Medicine, 8700 Beverly Blvd, Los Angeles, CA 90048, USA. stefan.pulst@cshs.org

Abstract

BACKGROUND:

Early-onset torsion dystonia is a hyperkinetic movement disorder caused by a deletion of 1 glutamic acid residue in torsin A protein, a novel member of the AAA family of adenosine triphosphatases. No mutation has been found so far in the closely related torsin B protein. Little is known about the molecular basis of the disease, and the cellular functions of torsin proteins remain to be investigated.

OBJECTIVE:

To study the regional, cellular, and subcellular distribution of the torsin A and torsin B proteins.

METHODS:

Expression of torsin proteins in the central nervous system was analyzed by Western blot analysis and immunohistochemistry in human postmortem brain tissues.

RESULTS:

We generated polyclonal antipeptide antibodies directed against human torsin A and torsin B proteins. In Western blot analysis of normal human brain homogenates, the antibodies specifically recognized 38-kd endogenous torsin A and 62-kd endogenous torsin B. Absorption controls showed that labeling was blocked by cognate peptide used for immunization. Immunolocalization studies revealed that torsin A and torsin B were widely expressed throughout the human central nervous system. Both proteins displayed cytoplasmic distribution, although torsin B localization in some neurons was perinuclear. Strong labeling of neuronal processes was detected for both proteins.

CONCLUSIONS:

Torsin A and torsin B have similar distribution in the central nervous system, although their subcellular localization is not identical. Strong expression in neuronal processes points to a potential role for torsin proteins in synaptic functioning.

PMID:
11405807
[PubMed - indexed for MEDLINE]
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