Abstract 8- 1345-1400
Category: Basic Science

At the end of the session,
participants will be able to:

  1. To appreciate the value of proteomics in research
  2. To understand desmin aggregation in Friedrich cardiomyopathy
  3. To understand the cytoskeletal abnormalities in Friedreich ataxia



Dr. Arnulf Koeppen graduated from the University of Göttingen, Germany. Postgratuate studies – Neurology: 1965-1966 Montefiore Hospital and Medical Center, Bronx, N.Y.; 1966-1968: Northwestern University School of Medicine, Chicago, IL. Neuropathology: 1969-1971: VA Medical Center in Hines, IL; and VA Medical Center, Albany, N.Y. Clinical and academic appointments – Chief, Neurology Service, VA Medical Center, Albany, N.Y., 1971-2008; Research Investigator, VA Medical Center, Albany, N.Y., 1969-present; Professor of neurology, Albany Medical College, 1979-present; Professor of pathology, Albany Medical College, 2000-present. Research focus – (1) Iron dysmetabolism in Friedreich’s ataxia; (2) The pathogenesis of hereditary ataxia; (3) Normal and pathological brain iron. Honors – Alexander-von-Humboldt Foundation research fellow (1978-1980); Distinguished Professor of Neurology, Albany Medical Collage (2011); associate editor, J Neuro Sci; Cerebellum.


Arnulf H Koeppen1,6, Rahman F Rafique1, Joseph E Mazurkiewicz2, Steven Pelech3,4, Catherine Sutter3, Qishan Lin5 , Jiang Qian6

1Research Service, Veterans Affairs Medical Center, Albany NY 12208 USA (arnulf.koeppen@med.va.gov)

2Department of Neuroscience and Experimental Therapeutics, Albany Medical College, Albany, NY 12208 USA

3Kinexus Bioinformatics Corporation, Vancouver, BC V6P 6T3 Canada

4Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, BC V6T 1Z3 Canada

5RNA Epitranscriptomics & Proteomics Resource, University at Albany, Albany, NY 12222, USA

6Department of Pathology, Albany Medical College, Albany, NY 12208 USA

Target Audience:
Pathologists, Residents, Medical Students


Friedreich cardiomyopathy is a secondary desminopathy


Hypertrophic cardiomyopathy with or without arrhythmia is the predominant cause of death in Friedreich ataxia (FA). The clinical and pathological phenotypes of FA are diverse. The pathogenesis of the FA-related lesions in the central and peripheral nervous systems, heart, skeleton, and endocrine pancreas is incompletely understood. The hypothesis in this research is that frataxin deficiency affects the cellular proteome in downstream mechanisms. Antibody microarrays of pooled FA heart lysates showed upregulation in several proteins, including alpha B crystallin, a desmin chaperone. Western blots of individual and pooled heart lysates revealed a prominent extra desmin band at 47 kDa that was absent or under-expressed in control samples. Mass spectrometry confirmed the origin of this band from canonical desmin (53 kDa). Co-immunoprecipitation of FA heart lysates with anti-desmin, recovery of the antigen-antibody complex with protein A-Sepharose, sodium dodecylsulfate polyacrylamide gel electrophoresis, and Western blotting confirmed the interaction of desmin and αB crystallin. Slide techniques, including immunohistochemistry and double-label immunofluorescence, disclosed desmin and alpha B crystallin aggregation near intercalated discs and Z-discs. Congo Red fluorescence microscopy did not confirm the formation of amyloid. We suggest that accumulation of a truncated desmin and aggregation with αB crystallin cause accelerated heart disease in FA. Laboratory support: VA Medical Center. Funding: Friedreich’s Ataxia Research Alliance.