Clinical and Genetic Analysis of Costa Rican Patients with Parkinson’s Disease
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PROVIDER: PRJNA746011 | ENA |
REPOSITORIES: ENA
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Project description:Clinical and Genetic Analysis of Costa Rican Patients with Parkinson’s Disease
| PRJNA746012 | ENA
Project description:Background: Most research in genomics of Parkinson's disease (PD) has been done in subjects of European ancestry, leading to sampling bias and leaving Latin American populations underrepresented. We sought to clinically characterize PD patients of Costa Rican origin and to sequence familial PD and atypical parkinsonism-associated genes in cases and controls. Methods: We enrolled 118 PD patients with 97 unrelated controls. Collected information included demographics, exposure to risk and protective factors, and motor and cognitive assessments. We sequenced coding and untranslated regions in familial PD and atypical parkinsonism-associated genes including GBA, SNCA, VPS35, LRRK2, GCH1, PRKN, PINK1, DJ-1, VPS13C, and ATP13A2. Results: Mean age of PD probands was 62.12 ± 13.51 years; 57.6% were male. The frequency of risk and protective factors averaged ~45%. Physical activity significantly correlated with better motor performance despite years of disease. Increased years of education were significantly associated with better cognitive function, whereas hallucinations, falls, mood disorders, and coffee consumption correlated with worse cognitive performance. We did not identify an association between tested genes and PD or any damaging homozygous or compound heterozygous variants. Rare variants in LRRK2 were nominally associated with PD; six were located between amino acids p.1620 and 1623 in the C-terminal-of-ROC (COR) domain of Lrrk2. Non-synonymous GBA variants (p.T369M, p.N370S, and p.L444P) were identified in three healthy individuals. One PD patient carried a pathogenic GCH1 variant, p.K224R. Discussion: This is the first study that describes sociodemographics, risk factors, clinical presentation, and genetics of Costa Rican patients with PD, adding information to genomics research in a Latino population.
| S-EPMC8371686 | biostudies-literature
Project description:Center for Common Disease Genomics (CCDG) - Cardiovascular: Harvard Gene-Diet Interaction in a Costa Rican Cohort
| PRJNA673013 | ENA
Project description:Center for Common Disease Genomics (CCDG) - Cardiovascular: Harvard Gene-Diet Interaction in a Costa Rican Cohort
| PRJNA673014 | ENA
Project description:The study will examine associations between dietary patterns and the metabolome on a random subset (n=80) of control subjects in a population-based case-control study of myocardial infarction in Costa Rican adults. Each sample will undergo complementary LC-MS-based approaches, specifically untargeted metabolite profiling and targeted lipidomic profiling. Subsequently we will test for associations between 1) previously derived dietary patterns and plasma molecular features and 2) the top plasma correlates of dietary patterns and metabolic syndrome.
2018-06-25 | ST000992 | MetabolomicsWorkbench
Project description:Background Information The costa is a prominent striated fiber that is found in protozoa of the Trichomonadidae family that present an undulating membrane. It is composed primarily of proteins that have not yet been explored. In this study, we used cell fractionation to obtain a highly enriched costa fraction whose structure and composition was further analyzed by electron microscopy and mass spectrometry. Results Electron microscopy of negatively stained samples revealed that the costa, which is a periodic structure with alternating electron-dense and electron-lucent bands, displays three distinct regions, named the head, neck and body. Fourier transform analysis showed that the electron-lucent bands present sub-bands with a regular pattern. An analysis of the costa fraction via one- and two-dimensional electrophoresis and liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) allowed the identification of 54 hypothetical proteins. Fourteen of those proteins were considered to be major components of the fraction. Conclusions The costa of T. foetus is a complex and organized cytoskeleton structure made of a large number of proteins which is assembled into filamentous structures. Some of these proteins exhibit uncharacterized domains and no function related according to gene ontology, suggesting that the costa structure may be formed by a new class of proteins that differ from those previously described in other organisms. Seven of these proteins contain prefoldin domains displaying coiled-coil regions. This propriety is shared with proteins of the striated fibers of other protozoan as well as in intermediate filaments. Significance Our observations suggest the presence of a new class of the cytoskeleton filaments in T. foetus. We believe that our data could auxiliate in determine the specific locations of these proteins in the distinct regions that compose the costa, as well as to define the functional roles of each component. Therefore, our study will help in the better understanding of the organization and function of this structure in unicellular organisms.
2017-04-04 | PXD005915 | Pride
Project description:Org.one project - Puerto Rican Parrot
| PRJEB72706 | ENA