gms | German Medical Science

57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

German Society for Neuropathology and Neuroanatomy

12. - 15.09.2012, Erlangen

57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

Article

Send article

SIL1expression levels in health and disease

Meeting Abstract

Search Medline for

  • presenting/speaker Stephan Buchkremer - University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
  • Eva Brauers - University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
  • Anand Goswami - University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
  • Joachim Weis - University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
  • Andreas Roos - University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Erlangen, 12.-15.09.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. Doc12dgnnPP5.4

doi: 10.3205/12dgnn104, urn:nbn:de:0183-12dgnn1044

Published: September 11, 2012

© 2012 Buchkremer et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.

Outline

Text

Marinesco-Sjögren syndrome is a rare autosomal recessive inherited disorder which mainly affects the brain, skeletal muscle as well as lens crystalline. The patients presented with cerebellar ataxia, mental impairment, marked myopathy and cataracts. In 2005, mutations in the SIL1 gene were identified as one pathogenetic factor for MSS. With exception of few missense mutations, nearly all pathogenic sequence alterations lead to a total loss of the corresponding protein which acts as a nucleotide exchange factor for the major ER-resident chaperon BiP. However, there are different in vitro studies focussing on depletion as well as overexpression of the SIL1 protein in different cell systems. Results of the latter ones thereby surprisingly suggest a possible negative effect of SIL1 overexpression on cellular homeostasis. Hence, a significant role of SIL1 expression levels in terms of depletion and upregulation in health and disease can be assumed. In our study, we focus on the endogenous expression levels of SIL1 in different human tissues and take a closer look on the effect of overexpression in different in vitro systems in order to investigate an assumed pathogenic effect of increased SIL1 levels.