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
. 2012 Apr;33(4):838.e1-5.
doi: 10.1016/j.neurobiolaging.2011.10.032. Epub 2011 Dec 7.

Screening for VPS35 mutations in Parkinson's disease

Una-Marie Sheerin  1 , Gavin Charlesworth, Jose Bras, Rita Guerreiro, Kailash Bhatia, Thomas Foltynie, Patricia Limousin, Laura Silveira-Moriyama, Andrew Lees, Nicholas Wood
Affiliations

Screening for VPS35 mutations in Parkinson's disease

Una-Marie Sheerin et al. Neurobiol Aging. 2012 Apr.

Abstract

Recently 2 groups have independently identified a mutation in the gene 'vacuolar protein sorting 35 homolog' (VPS35 c.1858G>A; p.Asp620Asn) as a possible cause of autosomal dominant Parkinson's disease (PD). In order to assess the frequency of the reported mutation and to search for other possible disease-causing variants in this gene, we sequenced all 17 exons of VPS35 in 96 familial PD cases, and exon 15 (in which the reported mutation is found) in an additional 64 familial PD cases, 175 young-onset PD cases, and 262 sporadic, neuropathologically confirmed PD cases. We identified 1 individual with the p.Asp620Asn mutation and an autosomal dominant family history of PD. Subsequent follow-up of the family confirmed an affected sibling and cousin who also carried the same mutation. No other potentially disease-causing mutations were identified. We conclude that the VPS35 c.1858G>A mutation is an uncommon cause of familial Parkinson's disease in our population.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Pedigree of a family showing autosomal dominant inheritance of Parkinson's disease (PD). Age of onset (O:) and age at death (D:) are indicated where known for all descendants of I-1 and I-2. The p.Asp620Asn mutation of VPS35 was confirmed by Sanger sequencing in the 3 living individuals affected by the disease.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Alcalay R.N., Siderowf A., Ottman R., Caccappolo E., Mejia-Santana H., Tang M.X., Rosado L., Louis E., Ruiz D., Waters C., Fahn S., Cote L., Frucht S., Ford B., Orbe-Reilly M., Ross B., Verbitsky M., Kisselev S., Comella C., Colcher A., Jennings D., Nance M., Bressman S., Scott W.K., Tanner C., Mickel S., Rezak M., Novak K.E., Friedman J.H., Pfeiffer R., Marsh L., Hiner B., Clark L.N., Marder K. Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study. Neurology. 2011;76:319–326. - PMC - PubMed
    1. Arighi C.N., Hartnell L.M., Aguilar R.C., Haft C.R., Bonifacino J.S. Role of the mammalian retromer in sorting of the cation-independent mannose 6-phosphate receptor. J. Cell Biol. 2004;165:123–133. - PMC - PubMed
    1. Bonifacino J.S., Hurley J.H. Retromer. Curr. Opin. Cell Biol. 2008;20:427–436. - PMC - PubMed
    1. Bonifacino J.S., Rojas R. Retrograde transport from endosomes to the trans-Golgi network. Nat. Rev. Mol. Cell Biol. 2006;7:568–579. - PubMed
    1. Bonifati V., Rizzu P., Van Baren M.J., Schaap O., Breedveld G.J., Krieger E., Dekker M.C., Squitieri F., Ibanez P., Joosse M., Van Dongen J.W., Vanacore N., Van Swieten J.C., Brice A., Meco G., Van Duijn C.M., Oostra B.A., Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003;299:256–259. - PubMed

Publication types

Substances