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Comparison of the levels of the spicing factor PSF in individuals with dystonia.

Dystonia is a neurological disorder characterized by sustained involuntary muscle contraction. One or more sites of the body is involved resulting in twisting and repetitive movement or abnormal posture. There are at least thirteen separate loci that have been implicated in primary dystonia (dystonia with no other neurological abnormalities). The affected gene for only a few of these cases has been identified. While searching for proteins involved in drug resistance, I noticed a protein that appeared to be elevated in the brain of an individual with dystonia. This protein was found to be present in numerous cell cultures so I purified to homogeneity by preparative isoelectric focusing and SDS polyacrylamide gel electrophoresis this protein from human embryonic kidney cells (i.e., HEK293). The identity of the protein was determined by mass spec and was found to be a protein previously identified and called PSF, a protein of multi functions one of which is RNA splicing. Western blots probed with anti PSF antibodies verified this identification.

Western blots of whole cell lysates of the dorsal region from area 4 of the motor cortex of human brain samples were probed with anti PSF and tubulin antibodies to determine the relative abundance of these proteins in normal individuals and individuals with dystonia. There was almost a four-fold difference in the amount of PSF relative to tubulin among these individuals but there was no significant difference in the average between these two groups of individuals.

Siegfried Detke *

Department of Biochemistry and Molecular Biology, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, ND, USA, 58202
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Title Annotation:Professional Communications
Author:Detke, Siegfried
Publication:Proceedings of the North Dakota Academy of Science
Date:Apr 1, 2005
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