Candidate genes for Parkinson disease: Lessons from pathogenesis
| Autor: | Enza Maria Valente, Elettra Sara Marini, Priscilla De Rosa, Vania Gelmetti |
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| Rok vydání: | 2015 |
| Předmět: |
FIS1
Candidate gene Clinical Biochemistry Misfolded protein damage PINK1 Biology Biochemistry Neuroprotection VPS35 Autophagy Genetics Inflammation Mitochondria Parkinson disease medicine MFN1 Humans Genetic Predisposition to Disease Genetic Association Studies Biochemistry (medical) Neurodegeneration Parkinson Disease General Medicine medicine.disease LRRK2 Genome-Wide Association Study |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 449 |
| ISSN: | 1873-3492 |
| Popis: | Parkinson disease (PD) is a multifactorial neurodegenerative disease characterized by the progressive loss of specific neuronal populations and accumulation of Lewy bodies in the brain, leading to motor and non-motor symptoms. In a small subset of patients, PD is dominantly or recessively inherited, while a number of susceptibility genetic loci have been identified through genome wide association studies. The discovery of genes mutated in PD and functional studies on their protein products have provided new insights into the molecular events leading to neurodegeneration, suggesting that few interconnected molecular pathways may be deranged in all forms of PD, triggering neuronal loss. Here, we summarize the most relevant findings implicating the main PD-related proteins in biological processes such as mitochondrial dysfunction, misfolded protein damage, alteration of cellular clearance systems, abnormal calcium handling and altered inflammatory response, which represent key targets for neuroprotection. |
| Databáze: | OpenAIRE |
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