Ignacio Marin's Lab

University of Valencia
Faculty of Biology


NEUROGENOMICA is a database specialized in Parkinson’s disease genetics. Neurogenomica forms part of the project “CARACTERIZACIÓN GENÓMICA Y PROTEÓMICA DE LA ENFERMEDAD DE PARKINSON (CAGEPEP)” (Genomic and Proteomic Characterization of Parkinson’s disease), financed by Ministerio de Ciencia y Tecnología (Spanish Science and Technology Ministry). One of the most important aspects of such project is the useful information running generated by each individual subprojects belonging to CAGEPEP in conjunction with the information generated by other whole world groups. That, allows us to develop new ways to explore cellular processes associated to Parkinson’s disease. Thus, bioinformatic analysis of all generated data is vitally important for CAGEPEP success. 
Such analysis, leaded by Dr. Ignacio Marín, tries to gather all genes and products genes data from different model organisms, also including structural, expression and interaction-protein information data. That makes Neurogenomica an useful and easy access database.

Parkinson’s disease(PD) is the most common neurodegenerative movement disorder. James Parkinson first described the disease in 1817, which came to be known as PD or idiopathic Parkinson’s disease, but the etiology of the disease remains unclear 185 years later. 

PD is a progressive neurodegenerative disease that is characterized by impairment in motor function such as bradykinesia, rest tremor, rigidity, gait abnormalities and postural instability.The motoric impairments in PD are usually levodopa (L-dopa) responsive and results in the improvement of these clinical symptoms (Gelb DJ, Oliver E, Gilman , 1999). Nonmotor clinical features may include dementia, depression, psychotic features, autonomic dysfunction, or abnormalities in olfactory and visual perception (Gelb DJ, Oliver E, Gilman , 1999). Pathologically, PD is characterized by the presence of Lewy bodies and a selective loss of dopaminergic neurons in the substantia nigra pars compacta (SNc). 
Lewy bodies, were first described by Friederich Lewy in 1912 as a characteristics hyaline inclusion in the cytoplasm of neurons.Classical Lewy bodies are neuronal proteinaceous cytoplasmic inclusions with a dense eosinophilic core surrounded by a clear halo and are usually present in the SNc and locus coeruleus (LC) of PD patients (Pollanen MS,Dickson DW, Bergeron C, 1993).

A consistent risk factor for Parkinson's disease is age (de Rijk et al., 1995). The list of putative environmental risk factors is long but, over several studies, few have shown a consistent association. Exposure to pesticides is one of the most established environmental risk factors for Parkinson's disease (Jenner, 2001).
Yet there are a number of families in which Parkinson's disease segregates in an unambiguously Mendelian fashion. Since 1997, linkage to 11 genes and loci has been reported. Six of these are implicated in Parkinson's disease with an autosomal dominant pattern of inheritance (Polymeropoulos et al., 1997; Gasser et al., 1998; Leroy et al., 1998; Farrer et al., 1999; Funayama et al., 2002; Le et al., 2003), four in that with autosomal recessive inheritance (Kitada et al., 1998; Hampshire et al., 2001; Valente et al., 2001; Bonifati et al., 2003) and one in late-onset, seemingly sporadic Parkinson's disease (Hicks et al., 2002).