title: Parkin expression in muscle from three patients with autosomal recessive Parkinson's disease carrying parkin mutation.
abstract: Absence of parkin has been shown to cause the downturned wing phenotype and severe disruption of myofibrils and mitochondrial abnormalities in parkin null mutant drosophila. The present report refers to studies on 3 patients with autosomal recessive Parkinson's disease with mild histopathological changes in muscle and a 'G' deletion at the exon9/intron9 junction or exon 3 deletion in the parkin gene. Using an antibody against a peptide corresponding to sequence number 305-323 of the human parkin protein it was demonstrated that parkin was expressed in skeletal muscle of these patients and that its distribution was similar to that in normal muscles. The mild nature of the histopathological changes, especially in the young patients, in the presence of parkin mutations may be due to residual E3-ubiquitin ligase activity of the mutant protein, to existence of muscle-specific splice-variants or to the relative functional insignificance of parkin in human muscle fibres. Further investigation of parkin expression in skeletal muscle is warranted.
authors.affiliation: Department of Neurology, Faculty of Medicine, Istanbul University, Istanbul, Turkey. pirayes@istanbul.edu.tr
authors.forename: P
authors.initials: P
authors.lastname: Serdaroglu
authors.forename: H
authors.initials: H
authors.lastname: Hanagasi
authors.forename: H
authors.initials: H
authors.lastname: Tasli
authors.forename: M
authors.initials: M
authors.lastname: Emre
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism*; D010300:Parkinson Disease / Q000235:genetics* / Q000378:metabolism*; D012508:Sarcolemma / Q000378:metabolism; D012519:Sarcoplasmic Reticulum / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000378:metabolism*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein