Version 3 DisGeNET is a comprehensive gene-disease association database that integrates associations from several sources that covers different biomedical aspects of diseases. To assess the concept of modularity of human diseases, this database performs a systematic study of the emergent properties of human gene-disease networks by means of network topology and functional annotation analysis.
Advanced Search Abstract Parkinson's disease PD is a chronic progressive neurodegenerative movement disorder characterized by a profound and selective loss of nigrostriatal dopaminergic neurons. Clinical manifestations of this complex disease include motor impairments involving resting tremor, bradykinesia, postural instability, gait difficulty and rigidity.
Current medications only provide symptomatic relief and fail to halt the death of dopaminergic neurons. A major hurdle in development of neuroprotective therapies are due to limited understanding of disease processes leading to death of dopaminergic neurons.
While the etiology of dopaminergic neuronal demise is elusive, a combination of genetic susceptibilities and environmental factors seems to play a critical role.
Recent findings implicate mitochondrial dysfunction, oxidative damage, abnormal protein accumulation and protein phosphorylation as key molecular mechanisms compromising dopamine neuronal function and survival as the underlying cause of pathogenesis in both sporadic and familial PD.
In this review we provide an overview of the most relevant findings made by the PD research community in the last year and discuss how these significant findings improved our understanding of events leading to nigrostriatal dopaminergic degeneration, and identification of potential cell survival pathways that could serve as targets for neuroprotective therapies in preventing this disabling neurological illness.
Start studying Basic Mechanisms of Disease and Risk Factors. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Over the past decade, studies of individuals infected with these viruses have established genetic associations with the probability of developing a chronic infection, risk of disease progression, and likelihood of treatment response. Mechanisms of Disease: genetic susceptibility and Stockholm Center for Public Health, Stockholm County Council, Stockholm, Sweden. Only English-language papers were included.
The neuropathological hallmarks are characterized by progressive and profound loss of neuromelanin containing dopaminergic neurons in the substantia nigra pars compacta SNpc with presence of eosinophillic, intracytoplamic, proteinaceous inclusions termed as Lewy bodies LB and dystrophic Lewy neurites in surviving neurons 1.
Although, neuronal loss in SNpc is pronounced there is widespread neurodegeneration in the central nervous system CNS with the pars compacta being involved in midstages of the disease 2.
Clinical features of PD include motor impairments involving resting tremor, bradykinesia, postural instability and rigidity along with non-motoric symptoms like autonomic, cognitive and psychiatric problems.
The molecular pathways leading to this pathological picture and concomitant clinical syndromes are obscure, but it is believed that it may result from an environmental factor, a genetic causation or a combination of the two.
The discovery of genes linked to rare familial forms of PD during the last decade have confirmed the role of genetics in development of PD, and provided vital clues in understanding molecular pathogenesis of the common sporadic illness.
These genetic breakthroughs provide us with unique avenues to pursue the pathologic mechanisms leading to disease development and help us identify probable targets for developing neuroprotective therapies, which may revolutionize the treatment of this debilitating disorder. Until the end of last century the influence of heredity was controversial however, identification of mutations in several genes responsible for Mendelian forms of PD confirms the role of genetics in disease development.
The precise relationship of these familial linked genes to the more common sporadic illness is currently uncertain, however shared pathophysiologies among the two disease entities are parkinsonism with nigrostriatal dopaminergic degeneration suggesting involvement of common pathogenic mechanisms 3.
Understanding these common disease-modifying pathways will promote our knowledge of the specific molecular aspects that lead to nigrostriatal degeneration in PD.#Biomarker Association: The gene/protein either plays a role in the etiology of the disease (e.g.
participates in the molecular mechanism that leads to disease) or is a biomarker for a disease. #Genetic Variation Association: Used when a sequence variation (a mutation, a SNP) is associated to the disease phenotype, but there is still no evidence to say that the variation causes the disease.
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment.
Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. BridgEwatEr StatE UNiVErSitY • thE UNdErgradUatE rEViEw • Diverse Mechanisms of Trinucleotide Repeat Disorders: An Exploration of Fragile X.
Mechanisms of Disease: genetic susceptibility and Stockholm Center for Public Health, Stockholm County Council, Stockholm, Sweden. Only English-language papers were included. Parkinson's disease (PD) was first described in the essay entitled, ‘An Essay of the Shaking Palsy’ by James Parkinson in PD is a devastating degenerative neurological illness without cure affecting 1–2% of the ‘over 50’ population with a current estimation of million in the US alone.
Genetic Heart Disease - Genetic Heart Disease research papers deal with the different factors involved in this health condition. Glomerulonephritis - Glomerulonephritis research papers discuss the medical term that refers to a series of diseases that affect the kidneys, known as renal disease.