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

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.

• Authors: M Konakova, D P Huynh, W Yong, S M Pulst
• Journal: Archives of neurology (Arch Neurol) Vol. 58 Issue 6 Pg. 921-7 (Jun 2001) ISSN: 0003-9942 [Print] United States
• PMID: 11405807 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Antibodies
• Carrier Proteins
• Dyt1 protein, mouse
• Molecular Chaperones
• TOR1A protein, human
• TOR1B protein, human
• Tor1b protein, mouse

Topics

• Animals
• Antibodies (metabolism)
• Antibody Specificity
• Brain (metabolism)
• Carrier Proteins (metabolism)
• Humans
• Molecular Chaperones
• Neurons (metabolism)
• Rabbits