Search results for "PARKIN"
showing 10 items of 468 documents
Hybrid chaotic firefly decision making model for Parkinson’s disease diagnosis
2020
Parkinson’s disease is found as a progressive neurodegenerative condition which affects motor circuit by the loss of up to 70% of dopaminergic neurons. Thus, diagnosing the early stages of incidence is of great importance. In this article, a novel chaos-based stochastic model is proposed by combining the characteristics of chaotic firefly algorithm with Kernel-based Naïve Bayes (KNB) algorithm for diagnosis of Parkinson’s disease at an early stage. The efficiency of the model is tested on a voice measurement dataset that is collected from “UC Irvine Machine Learning Repository.” The dynamics of chaos optimization algorithm will enhance the firefly algorithm by introducing six types of chao…
THE ENTERIC NERVOUS SYSTEM: NEW DEVELOPMENTS AND EMERGING CONCEPTS
2011
The enteric nervous system (ENS) is an integrative neuronal network, organized in two ganglionated plexuses, myenteric and submucosal, composed of neurons and enteric glial cells, controlling the activity of the smooth muscle of the gut, mucosal secretion and blood flow. The ENS contains as many neurons as the spinal cord, and the functional and chemical diversity of enteric neurons closely resembles that of the central nervous system. This highly integrated neural system is also referred to as the ‘brain-in-the-gut’, because of its capability to function in the absence of nerve inputs from the central nervous system.
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
2012
Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.
Factors influencing psychological well-being in patients with Parkinson's disease.
2017
Background Both motor and non-motor symptoms could contribute to significant deterioration of psychological well-being in patients with Parkinson's disease (PD). However, its assessment has been only indirectly evaluated using tools based on health-related quality of life (HRQoL), such as the PDQ-39 scale. Objectives To evaluate psychological well-being in PD using a specific tool of assessment, the Psychological Well-being Scale (PWS), and its clinical correlates. Methods This article reports data of patients' perception of health state, as measured by means of the PWS, from an epidemiological, cross-sectional study conducted in Italian PD patients (FORTE Study). We tested possible relatio…
Comparative Genomics of the RBR Family, Including the Parkinson's Disease–Related Gene Parkin and the Genes of the Ariadne Subfamily
2002
Genes of the RBR family are characterized by the RBR signature (two RING finger domains separated by an IBR/DRIL domain). The RBR family is widespread in eukaryotes, with numerous members in animals (mammals, Drosophila, Caenorhabditis) and plants (Arabidopsis). But yeasts, such as Saccharomyces cerevisiae or Schizosaccharomyces pombe, contain only two RBR genes. We determined the phylogenetic relationships and the most likely orthologs in different species of several family members for which functional data are available. These include: (1) parkin, whose mutations are involved in forms of familial Parkinson's disease; (2) the ariadne genes, recently characterized in Drosophila and mammals;…
Parkin and relatives: the RBR family of ubiquitin ligases
2004
Mutations in the parkin gene cause autosomal-recessive juvenile parkinsonism. Parkin encodes a ubiquitinprotein ligase characterized by having the RBR domain, composed of two RING fingers plus an IBR/DRIL domain. The RBR family is defined as the group of genes whose products contain an RBR domain. RBR family members exist in all eukaryotic species for which significant sequence data is available, including animals, plants, fungi, and several protists. The integration of comparative genomics with structural and functional data allows us to conclude that RBR proteins have multiple roles, not only in protein quality control mechanisms, but also as indirect regulators of transcription. A recent…
Impact of Parkinson's disease risk loci on age at onset
2015
Background The aim of this study was to assess whether recently identified Parkinson's disease (PD) risk genes also influence age at onset in PD. Methods We genotyped 23 single-nucleotide polymorphisms in 1,526 Danish PD patients and performed linear regression analyses with age at onset. The combined impact of PD risk loci on age at onset was assessed by linear regression analyses using a weighted genetic risk score. Results The strongest effects were observed with rs12726330 in GBA (beta = –3.63, P = 2.0 × 10−5) and rs34311866 in TMEM175/GAK (beta = –1.19, P = 4.0 × 10−3), corresponding to a 3.6-y and 1.2-y decrease of age at onset per risk allele, respectively. The weighted genetic risk …
Overexpression of Septin 4, the Drosophila homologue of human CDCrel-1, is toxic for dopaminergic neurons
2007
parkin loss-of-function mutations are linked to autosomal recessive juvenile parkinsonism. Parkin is an E3 ubiquitin ligase that promotes degradation of specific target proteins by the proteasome. It has been proposed that loss of Parkin activity will result in accumulation of its substrates, thus leading to dopaminergic (DA) neuron death. In Drosophila, parkin mutations cause degeneration of a subset of DA neurons in the brain but no Parkin substrates have yet been described. Here we characterized the septin 4 gene, which encodes the Drosophila orthologue of human CDCrel-1, a Parkin substrate. We showed that Septin 4 overexpression causes age-dependent disruption of DA neuron integrity in …
Pathological voice analysis via digital signal processing
2015
The interest in pathological voice analysis for specific neurological diseases is growing up aiming to offer more Health-care tele monitoring services since new high performing electronic devices are available for the end-user. In this article we show some parameters that can be digitally extracted and analyzed from pathological voices, in order to find a distinctive sign of the Parkinson disease. As a result, we will show a parameter that gives some information about the Parkinson disease characterization, particularly for male patients. We will also discuss about the needed computational cost related to parameters extraction and elaboration, aiming to target a possible tough yet portable …
Effects of a Resistance Training Protocol on Physical Performance, Body Composition, Bone Metabolism, and Systemic Homeostasis in Patients Diagnosed …
2022
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by motor impairments and it is correlated with loss of bone mineral density. This study aimed to analyze the effects of resistance training on bone metabolism, systemic homeostasis, body composition, and physical performance in people with PD. Thirteen subjects (age 64.83 ± 5.70) with PD diagnosis were recruited. Participants performed neuromuscular tests, body composition assessment, and blood sample analysis at baseline, and after an 11 weeks-training period. Each training session lasted 90 min, three times a week. The participants had significant improvements in the timed up and go (p < 0.01), sit to stand (p < …