Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the last 4 years much progress has been made in the understanding of mitochondrial disorders. Point-mutations, deletions and depletion of the mitochondrial genome are associated with disorders like Leber's disease, MERRF (Myoclonus Epilepsia with Ragged Red Fibers), MELAS (mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-like episodes) and several others. Recently, mitochondrial dysfunctions have been also related to neurodegenerative disorders like Parkinson's disease and to aging. Since the brain depends mostly on mitochondrial energy supply, mitochondrial dysfunctions may affect the nervous system more severely than other tissues causing or worsening diseases and playing a role in the biological deterioration of aging. Furthermore, the mitochondrial energy supply is associated with the production of highly reactive oxygen species. Ninety-five percent of the molecular oxygen is metabolized within the mitochondria by the electron-transport chain so that mitochondria are highly exposed to oxidative stress which may damage selected neuronal populations. Oxygen radicals created during respiration induce mitochondrial dysfunction which accelerates the production of more deleterious species of oxygen. The latter step further increases mitochondrial malfunction, thus intensifying and perpetuating the cycle. These two mechanisms combined may lead to cell death in brain and other tissues with high metabolic rate. Therefore, in neurodegenerative disorders such as Parkinson's disease mitochondrial dysfunction and oxidative stress may cause or worsen the clinical features.
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PMID:Oxidative stress and mitochondrial dysfunction in neurodegeneration. 784 18

The gradient of negative slope (Ns') changed in parallel with the velocity of step movement in normal individuals. We can not evaluate the MRCPs without considering this factor among patients and/or subjects. We recorded the MRCPs of thirty nine patients with cerebellar ataxias and sixteen patients with Parkinson disease (PD). Goniometer was attached on the patient's wrist to measure the velocity of the wrist movement. In the patients with spinocerebellar degeneration with denate nucleus lesion (Machado-Joseph disease, DRPLA, MERRF, dyssynergia cerebellaris myoclonica, galactosialidosis), the gradients of Ns' were reduced, although the movements themselves were as fast as normal control. In the patients with spinocerebellar degeneration without this lesion, the MRCPs were able to record as normal control, and their gradients of Ns' became steeper according to the increase of the movement angular velocity. On the contrary, in the patients with Parkinson disease, the gradients of Ns' were steeper in the patients with slow movement than in those with fast movement. The MRCP helps us to investigate the pathophysiology of the movement disorders. It is desirable that physiological data on the MRCP are extensively accumulated.
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PMID:[Movement-related cortical potentials (MRCPs) and voluntary movement--clinical usefulness of MRCPs]. 875 52

Dysfunction in mitochondrial processes has been related to several pathologies. In these disorders, the cell suffers oxidative imbalance that is mostly due to defects in pyruvate metabolism, mitochondrial fatty acids oxidation, the citric acid cycle or electron transport by the mitochondrial respiratory chain. These metabolic alterations produce mitochondrial diseases that have been related to inherited syndromes, such as MERRF or MELAS. The main affected organs are brain, skeletal muscle, kidney, heart and liver, because of the high energetic demand and the oxidative metabolism. Moreover, the relationship between mitochondrial dysfunction and neurodegenerative processes, such as Parkinson disease or Alzheimer disease, as well as ageing, has been shown. Because mitochondrias are the target of several xenobiotics, such as aspirin, AZT or alcohol consumption, mitochondrial impairment has also been proposed as a mechanism of toxicity. Most laboratory tests that are available in the diagnosis of mitochondrial illness are assayed in tissue biopsies and are usually difficult to interpret. Recently, it has been shown that non-invasive techniques, such as nuclear magnetic resonance or the 2-keto[1-(13)C]isocaproic acid breath test, may be useful to assess mitochondrial function. This article attempts to show the laboratory approach to mitochondrial diseases, reviewing new techniques that could be of great value in the research of mitochondrial function, such as the 2-keto[1-(13)C]isocaproic breath test.
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PMID:Laboratory approach to mitochondrial diseases. 1180 Feb 89

Aim. This review article describes literature sources devoted to the investigation of mitochondrial dysfunction using cytoplasmic hybrids (cybrids). The presented studies were carried out on cultures of cybrid cell lines HL60, MOL T-4, A549, 143B, HeLa, Arpe-19, HEK-293, SH-SY5Y and NT2. According to the analysis of scientific world literature, some of the most promising models for studying mitochondrial dysfunction are cell cultures without mitochondria (rho0) and cytoplasmic hybrids containing one or several mutations of mitochondrial genome. In the review scientific researches on studying biochemical and molecular cellular pathological processes in cybrid cells in various human diseases such as Alzheimer's disease and mild cognitive impairment, MERRF and MELAS syndromes, Leber's optic atrophy and Parkinson's disease were considered. Material dedicated to cybrids as potential models for the study of treatment possibilities was presented separately. Conclusion. The analyzed in the review rho0-cell cultures and cybrid lines containing mtDNA mutations may be models for the study of mitochondrial genome dysfunctions, biochemical and molecular cellular pathological processes. It is worth noting that in various cell cultures, similar tendencies are observed in functional activity changes of rho0-cell and cybrids compared with native cell lines. For example, such tendencies as reduction of oxygen consumption level, morphological changes of mitochondrial structure, resistance to apoptosis, reduction of ATP consumption level, increase in glucose consumption, activity deterioration of some respiratory chain complexes.
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PMID:[Study of mitochondrial dysfunction using cytoplasmic hybrid]. 2921 49