Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2013 Mar 12;80(11):1062-4.
doi: 10.1212/WNL.0b013e31828727ba. Epub 2013 Feb 20.

A novel α-synuclein missense mutation in Parkinson disease

Christos Proukakis  1 , Christopher G Dudzik, Timothy Brier, Donna S MacKay, J Mark Cooper, Glenn L Millhauser, Henry Houlden, Anthony H Schapira
Affiliations
Case Reports

A novel α-synuclein missense mutation in Parkinson disease

Christos Proukakis et al. Neurology. .

Abstract

Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case.

PubMed Disclaimer

Figures

Figure 1
Figure 1. The H50Q mutation
(A) Multiple alignment of α-synuclein (SNCA) indicates conservation of H50 (in bold) in higher vertebrates. Other nonconserved residues in different species in the region shown are underlined. (B) Schematic representation of SNCA secondary structure, highlighting the positions of the new and known mutations in exon 3. (C) X-band electron paramagnetic resonance spectra of wild-type (wt) SNCA, H50Q, and H50A, with 1.0 Eq Cu2+. Vertical lines correspond to parallel hyperfine features of both wt and mutant forms.
See this image and copyright information in PMC

References

    1. Gu M, Owen AD, Toffa SE, et al. Mitochondrial function, GSH and iron in neurodegeneration and Lewy body diseases. J Neurol Sci 1998;158:24–29 - PubMed
    1. Dudzik CG, Walter ED, Millhauser GL. Coordination features and affinity of the Cu2+ site in the α-synuclein protein of Parkinson’s disease. Biochemistry 2011;50:1771–1777 - PMC - PubMed
    1. Pall HS, Blake DR, Gutteridge JM, et al. Raised cerebrospinal fluid copper concentration in Parkinson's disease. Lancet 1987;330:238–241 - PubMed
    1. Uversky VN, Li J, Fink AL. Metal-triggered structural transformations, aggregation, and fibrillation of human alpha-synuclein. J Biol Chem 2001;276:44284–44296 - PubMed
    1. Wang X, Moualla D, Wright JA, Brown DR. Copper binding regulates intracellular alpha-synuclein localisation, aggregation and toxicity. J Neurochem 2010;113:704–714 - PubMed

Publication types

Substances