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Marina Konakova, PhD; Duong P. Huynh, PhD; William Yong, MD; Stefan M. Pulst, MD

Arch Neurol. 2001;58:921-927.

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.

From the Rose Moss Laboratory for Parkinson's and Neurodegenerative Diseases, Burns and Allen Research Institute (Drs Konakova, Huynh, and Pulst), the Department of Surgical Pathology (Dr Yong), and the Division of Neurology (Dr Pulst), Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, Calif.

Corresponding author and reprints: Stefan M. Pulst, MD, Division of Neurology, Cedars-Sinai Medical Center, UCLA School of Medicine, 8700 Beverly Blvd, Los Angeles, CA 90048 (e-mail: stefan.pulst{at}cshs.org).

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