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J Neural Transm (Vienna). 2006 Dec;113(12):1903-8. Epub 2006 Jun 6.

Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease.

Author information

1
Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany.

Abstract

Seven in absentia homolog 1 (SIAH-1) is a member of the RING-finger-containing E3 ubiquitin ligases. Two substrates of SIAH-1 are alpha-synuclein and synphilin-1, both of these proteins are involved in Parkinson's disease (PD). Recently, mutations in Parkin, another E3 ubiquitin ligase which ubiquinates synphilin-1 and glycosylated alpha-synuclein, have been defined as a major cause of autosomal recessive PD. The potential role of SIAH-1 in PD is further underlined as SIAH-1 protein is a component of the Lewy bodies and as it plays a role in apoptosis caused by nitric oxide (NO) induced oxidative stress. Thus, we performed a mutation screening of the SIAH-1 gene in PD patients. However, screening a large sample of 209 familial and sporadic PD patients we could not find any disease causing mutation. We therefore conclude that genetic alterations of SIAH-1 do not significantly contribute to the pathogenesis of PD.

PMID:
16752048
DOI:
10.1007/s00702-006-0480-z
[Indexed for MEDLINE]

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