The purpose of this clinical core is to collect and store skin fibroblasts, from patients with sporadic and familial Parkinson's disease (PD) and from healthy age-matched controls, destined for future genetic, epigenetic, and stem cell reprogramming investigations. Serge Przedborski will direct this effort, including selection of the potential subjects and supervising collection of relevant clinical information. Carol Moskowitz will obtain informed consent, perform the skin biopsy and draw blood for genotyping. We anticipate performing approximately 180 skin biopsies per year based on our average number of PD patients seen at our outpatient clinic (2,922 patients/yr of whom 422 are new patients) and on Carol Moskowitz's prior recruitment rate for other projects involving skin biopsy. Samples will be processed in Serge Przedborski's laboratory according to standard protocols and stored in a long-term liquid nitrogen tank. Lorraine Clark will genotype all blood samples for known PD mutations and associated SNPs in the following genes: alpha-Synuclein, Parkin, DJ-1, PINK1, LRRK2, UCHL1, ATP13A2, GIGYF2, GBA, MAPI and APOE. Aliquots of cell lines will be made available to both inside and outside investigators. To request aliquots, a Web-based formal request procedure similar to the New York Brain Bank at Columbia University will be developed and posted on the PD-DOC website. In case of high demand for limited samples, preference will be given to the members of the Udall Center network.
(Seeinstructions): Skin cells may harbor important information regarding the cause and mechanism of Parkinson's disease. By collecting such samples from thoroughly characterized patients and making these samples available to the research community, this Core provides a service important to public health and scientific advancement.
|Mosharov, Eugene V; Borgkvist, Anders; Sulzer, David (2015) Presynaptic effects of levodopa and their possible role in dyskinesia. Mov Disord 30:45-53|
|Robeson, William; Dhawan, Vijay; Ma, Yilong et al. (2014) Radiation absorbed dose to the basal ganglia from dopamine transporter radioligand 18F-FPCIT. Biomed Res Int 2014:498072|
|Morimoto, Richard I; Cuervo, Ana Maria (2014) Proteostasis and the aging proteome in health and disease. J Gerontol A Biol Sci Med Sci 69 Suppl 1:S33-8|
|Foster, Daniel J; Gentry, Patrick R; Lizardi-Ortiz, Jose E et al. (2014) M5 receptor activation produces opposing physiological outcomes in dopamine neurons depending on the receptor's location. J Neurosci 34:3253-62|
|Fedorowicz, Maja A; de Vries-Schneider, Rosa L A; Rub, Cornelia et al. (2014) Cytosolic cleaved PINK1 represses Parkin translocation to mitochondria and mitophagy. EMBO Rep 15:86-93|
|Cebrián, Carolina; Zucca, Fabio A; Mauri, Pierluigi et al. (2014) MHC-I expression renders catecholaminergic neurons susceptible to T-cell-mediated degeneration. Nat Commun 5:3633|
|Janicki, S C; Park, N; Cheng, R et al. (2014) Estrogen receptor ? variants affect age at onset of Alzheimer's disease in a multiethnic female cohort. Dement Geriatr Cogn Disord 38:200-13|
|Bras, Jose; Guerreiro, Rita; Darwent, Lee et al. (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet 23:6139-46|
|Romaní-Aumedes, J; Canal, M; Martín-Flores, N et al. (2014) Parkin loss of function contributes to RTP801 elevation and neurodegeneration in Parkinson's disease. Cell Death Dis 5:e1364|
|Guardia-Laguarta, Cristina; Area-Gomez, Estela; Rüb, Cornelia et al. (2014) ?-Synuclein is localized to mitochondria-associated ER membranes. J Neurosci 34:249-59|
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