Artikel
SIL1expression levels in health and disease
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Autoren
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Stephan Buchkremer
- University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
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Eva Brauers
- University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
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Anand Goswami
- University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
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Joachim Weis
- University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
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Andreas Roos
- University Hospital RWTH Aachen, Institute of Neuropathology, Aachen, Germany
| Veröffentlicht: | 11. September 2012 |
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Gliederung
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.
